LOVD - Variant listings for STRA6

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+/+ 02 Exon - c.277insCC c.35_36dupCC
    + c.69G>A
- p.(Gly13Profs*60) Frame-shifting duplication predicted. PTC created - NMD possible Protein synthesis unlikely if NMD occurs STRA6_00040 35 DNA SEQ - CCTCCC CC CCCC GGGCCA Duplication - - - West 2009 [19213032] Twin A STRA6 anophthalmia syndrome West 2009 [19213032] [11857549], United Kingdom (Great Britain):Edinburgh DNA SEQ Parental samples unavailable but mutations shown by cloning to be on different chromosomes. Patient is a twin (sib normal) 1 - male - Sporadic - - - Bilateral anophthalmia; bilateral diaphragmatic eventration; cryptorchidism; bilateral inguinal hernia. Intrauterine growth retardation. Heart defects; incomplete lobation of lungs; high arched palate. -
+/+ 02 Exon - c.52_53insGACT c.49_52dupGACT
    + c.1931C>T
- p.(Tyr18*) Duplication creates immediate PTC. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00058 49 DNA SEQ - ACAGAG GACT GACTGACT ACTCCT Duplication - - - Ng 2012 [22283518] Patient II.1 MCOPS9 Ng 2012 [22283518], United Kingdom (Great Britain):Edinburgh DNA SEQ Heterozygous sister (II.3; p.Tyr18*/+) has right optic disc coloboma, left iris coloboma and left microphthalmia. Another sister (II.4; untested, died aged 3.5 months) had bilateral microphthalmia, lung hypoplasia and CHD. Heterozygous mother (p.Thr644Met/+) has posterior embryotoxon. 1 - male Familial - - - - Bilateral anophthalmia; tetralogy of Fallot. Died aged 7 weeks -
+/+ 02 Exon - - c.50_52delACTinsCC
    + c.50_52delACTinsCC
- p.(Asp17Alafs*55) Frame-shifting indel predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD STRA6_00013 50 DNA SEQ - CAGAGG ACT CC ACTCCT Insertion/Deletion - - - Golzio 2007 [17503335] Fetus 1 Matthew-Wood syndrome Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Parental consanguinity. A brother (heterozygous for the mutation) has bilateral coloboma of iris and retina. Heterozygous parents are unaffected. 1 Romanian male Familial - - - - Bilateral anophthalmia; bilateral lung agenesis; diaphragmatic eventration; absent pulmonary artery branches; mild facial dysmorphism; duodenal stenosis; annular pancreas. Pregnancy terminated. -
+/+ 02 Exon - - c.50_52delACTinsCC
    + c.50_52delACTinsCC
- p.(Asp17Alafs*55) Frame-shifting indel predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD STRA6_00014 50 DNA SEQ - CAGAGG ACT CC ACTCCT Insertion/Deletion - - - Golzio 2007 [17503335] Fetus 1 Matthew-Wood syndrome Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Parental consanguinity. A brother (heterozygous for the mutation) has bilateral coloboma of iris and retina. Heterozygous parents are unaffected. 1 Romanian male Familial - - - - Bilateral anophthalmia; bilateral lung agenesis; diaphragmatic eventration; absent pulmonary artery branches; mild facial dysmorphism; duodenal stenosis; annular pancreas. Pregnancy terminated. -
+/+ 02 Exon - - c.50_52delACTinsCC
    + c.878C>T
- p.(Asp17Alafs*55) Frame-shifting indel predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD STRA6_00074 50 DNA SEQ - CAGAGG ACT CC ACTCCT Insertion/Deletion - - - Sadowski 2017 [28398665] Sadowski et al (2017) Matthew-Wood syndrome [28398665], United Kingdom (Great Britain):Edinburgh DNA SEQ Infant is a compound heterozygote for a paternally inherited missense mutation and a maternally inherited frameshift mutation. 1 - male Familial Sporadic - - - Bilateral anophthalmia, agenesis of the left lung, heart defects, kidney defects. Infant died 1 hr after birth. -
+/+ 02 Exon - - c.52delT
    + c.1684+1G>A
- p.(Tyr18Thrfs*54) - - STRA6_00066 52 DNA SEQ - GAGGAC T - ACTCCT Deletion - - Mutation reported but no data shown [25457163] Slavotinek 2015 Microphthalmia [25457163], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - male Familial - - - - Bilateral microphthalmia -
+/+ 02 Exon - c.310G>A c.69G>A
    + c.35_36dupCC
- p.(Trp23*) Trp (ugg) > ter (uga) predicted. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00041 69 DNA SEQ - CAGCTG G A TACATC Substitution - - - West 2009 [19213032] Twin A STRA6 anophthalmia syndrome West 2009 [19213032] [11857549], United Kingdom (Great Britain):Edinburgh DNA SEQ Parental samples unavailable but mutations shown by cloning to be on different chromosomes. Patient is a twin (sib normal) 1 - male - Sporadic - - - Bilateral anophthalmia; bilateral diaphragmatic eventration; cryptorchidism; bilateral inguinal hernia. Intrauterine growth retardation. Heart defects; incomplete lobation of lungs; high arched palate. -
+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00069 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 5 Multiple malformations [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents non-consanguineous. A previous pregnancy was terminated owing to severe anomalies in the male foetus including fused eyelids, camptodactyly and absent lungs. 1 Hmong Chinese male - - - - - Pregnancy terminated. Male foetus had oedema, truncus arteriosus, small chest, camptodactyly and ocular anomalies. -
+/+ 02 Exon IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00070 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 5 Multiple malformations [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents non-consanguineous. A previous pregnancy was terminated owing to severe anomalies in the male foetus including fused eyelids, camptodactyly and absent lungs. 1 Hmong Chinese male - - - - - Pregnancy terminated. Male foetus had oedema, truncus arteriosus, small chest, camptodactyly and ocular anomalies. -
+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00071 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 6 Anophthalmia [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Hmong Chinese female - - - - - Bilateral anophthalmia, abnormal hair growth, camptodactyly, absent lungs, single ventricle, streak ovaries, multilobulated spleen -
+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00072 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 6 Anophthalmia [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Hmong Chinese female - - - - - Bilateral anophthalmia, abnormal hair growth, camptodactyly, absent lungs, single ventricle, streak ovaries, multilobulated spleen -
+/+ 03 Exon - - c.120dupG
    + c.1699C>T
- p.(Pro41Alafs*39) Frame-shifting deletion predicted to create PTC. NMD likely Protein synthesis unlikely STRA6_00064 120 DNA SEQ - GAAGTG - G CCCTCC Duplication - - - - 3279 Anophthalmia (24498598), United Kingdom (Great Britain):Edinburgh DNA SEQ Proband has bilateral anophthalmia but is otherwise very mildly affected 1 - male Familial Sporadic Yes No - Bilateral anophthalmia, reduced left lung capacity. Development otherwise normal -
+/+ 03 Exon - - c.147delC
    + c.147delC
- p.(Gly50Alafs*22) Predicted frame-shifting deletion, resulting in PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD. Absence of immunoreactive protein in patient's fibroblasts STRA6_00003 147 DNA SEQ - ACCACC C - GGCCTG Deletion - - - Pasutto 2007 [17273977] Fam2-IV:1 STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents consanguineous. Subsequent affected pregnancy terminated. Foetus had bilateral anophthalmia and congenital diaphragmatic hernia 1 Turkish male Familail Sporadic - - - Bilateral anophthalmia; congenital diaphragmatic hernia; atrial and ventral septal defects. Patient still alive age 14 years with profound mental retardation and short stature. -
+/+ 03 Exon - - c.147delC
    + c.147delC
- p.(Gly50Alafs*22) Predicted frame-shifting deletion, resulting in PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD. Absence of immunoreactive protein in patient's fibroblasts STRA6_00004 147 DNA SEQ - ACCACC C - GGCCTG Deletion - - - Pasutto 2007 [17273977] Fam2-IV:1 STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents consanguineous. Subsequent affected pregnancy terminated. Foetus had bilateral anophthalmia and congenital diaphragmatic hernia 1 Turkish male Familail Sporadic - - - Bilateral anophthalmia; congenital diaphragmatic hernia; atrial and ventral septal defects. Patient still alive age 14 years with profound mental retardation and short stature. -
+/+ 05 Exon - - c.269C>T
    + c.269C>T, c.961A>C, c.961A>C
- p.(Pro90Leu) Pro (ccu) > Leu (cuu) predicted Mutation abolishes cell surface expression and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00011 269 DNA SEQ 0/190 CTAG/CC C T TGTGGA Substitution - - - Pasutto 2007 [17273977] [18387951] MWS6-BK STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Parental samples unavailable; the second allele in the patient could therefore be a deletion. 1 Pakistani female - Sporadic - - - Bilateral anopththalmia; hypoplastic lungs; congenital diaphragmatic hernia; patent ductus arteriosus; hypoplastic kidneys; bicornuate uterus; Meckel diverticulum. Died at 1 day. -
+/+ 05 Exon - - c.269C>T
    + c.269C>T, c.961A>C, c.961A>C
- p.(Pro90Leu) Pro (ccu) > Leu (cuu) predicted Mutation abolishes cell surface expression and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00012 269 DNA SEQ 0/190 CTAG/CC C T TGTGGA Substitution - - - Pasutto 2007 [17273977] [18387951] MWS6-BK STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Parental samples unavailable; the second allele in the patient could therefore be a deletion. 1 Pakistani female - Sporadic - - - Bilateral anopththalmia; hypoplastic lungs; congenital diaphragmatic hernia; patent ductus arteriosus; hypoplastic kidneys; bicornuate uterus; Meckel diverticulum. Died at 1 day. -
-/- 05 Exon - - c.331C>T
    + 13 others
- p.(=) Leu (cug) > Leu (uug) predicted No change STRA6_00017 331 DNA SEQ - GTCCTC C T TGAGCT Substitution - - rs11857410 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 05 Exon - - c.331C>T
    + 13 others
- p.(=) Leu (cug) > Leu (uug) predicted No change STRA6_00018 331 DNA SEQ - GTCCTC C T TGAGCT Substitution - - rs11857410 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 05 Exon - - c.331C>T
    + c.1581G>A
- p.(=) Leu (cug) > Leu (uug) predicted No change STRA6_00038 331 DNA SEQ - GTCCTC C T TGAGCT Substitution - - rs11857410 in dbSNP White 2008 [19112531] dbSNP Control 4 None White 2008 [19112531], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Healthy control -
-/- 05 Intron IVS5+97A>G - c.406+97A>G
    + 13 others
r.(=) - No known effect on RNA - STRA6_00019 406 DNA SEQ - AGTAAC A G GGAACA Substitution - - rs34147822 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 05 Intron IVS5+97A>G - c.406+97A>G
    + 13 others
r.(=) - No known effect on RNA - STRA6_00020 406 DNA SEQ - CTGTCA A G TGAGAT Substitution - - rs34147822 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 05 Intron IVS5+111A>G - c.406+111A>G
    + 13 others
r.(=) - No known effect on RNA - STRA6_00021 406 DNA SEQ - CTGTCA A G TGAGAT Substitution - - rs35255788 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 05 Intron IVS5+111A>G - c.406+111A>G
    + 13 others
r.(=) - No known effect on RNA - STRA6_00022 406 DNA SEQ - CTGTCA A G TGAGAT Substitution - - rs35255788 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 06 Intron IVS6+24T>A - c.430+24T>A
    + 13 others
r.(=) - No known effect on RNA - STRA6_00023 430 DNA SEQ - ACAGAG T A TGAGAC Substitution - - rs971756 in db SNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 06 Intron IVS6+24T>A - c.430+24T>A
    + 13 others
r.(=) - No known effect on RNA - STRA6_00024 430 DNA SEQ - ACAGAG T A TGAGAC Substitution - - rs971756 in db SNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 06 Intron IVS6-37C>T - c.431-37C>T
    + 13 others
r.(=) - No known effect on RNA - STRA6_00025 431 DNA SEQ - CTGCCC C T TCCAGC Substitution - - rs971757 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 06 Intron IVS6-37C>T - c.431-37C>T
    + 13 others
r.(=) - No known effect on RNA - STRA6_00026 431 DNA SEQ - CTGCCC C T TCCAGC Substitution - - rs971757 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
+/+ 07 Exon - c.527_528insG c.527dupG
    + c.527dupG
- p.(Ser177Glnfs*58) Frame-shifting insertion predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA is affected by NMD STRA6_00016 527 DNA SEQ - TGCTCG G GG CAGCAC Duplication - - - Golzio 2007 [17503335] Fetus 2 Matthew-Wood syndrome Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ DNA from consanguineous parents unavailable. Foetus is probably homozygous, but second allele could be a deletion. 1 Portuguese female - Sporadic - - - Bilateral anophthalmia; bilateral lung agenesis; diaphragmatic eventration; congenital heart defects; mild facial dysmorphism; duodenal stenosis; pancreatic agenesis; polylobar spleen. Pregnancy terminated. -
+/+ 07 Exon - c.527_528insG c.527dupG
    + c.527dupG
- p.(Ser177Glnfs*58) Frame-shifting insertion predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA is affected by NMD STRA6_00015 527 DNA SEQ - TGCTCG G GG CAGCAC Duplication - - - Golzio 2007 [17503335] Fetus 2 Matthew-Wood syndrome Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ DNA from consanguineous parents unavailable. Foetus is probably homozygous, but second allele could be a deletion. 1 Portuguese female - Sporadic - - - Bilateral anophthalmia; bilateral lung agenesis; diaphragmatic eventration; congenital heart defects; mild facial dysmorphism; duodenal stenosis; pancreatic agenesis; polylobar spleen. Pregnancy terminated. -
-/- 07 Intron IVS7+9T>G - c.596+9T>G
    + c.1301-44A>C, c.1416G>A
- - Effect unknown - STRA6_00031 596 DNA SEQ - AACCGC T G GATCAC Substitution - - rs28541560 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 5 Congenital defects of lungs, diaphragm and aorta Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Foetus has 3 heterozygous STRA6 variants, none of which appears pathological. Eyes unaffected - phenotype does not match STRA6 spectrum. 1 - - - - - - - Congenital defects of lungs, diaphragm and aorta; single umbilical artery -
+/+ 08 Exon - - c.650G>A
    + c.1774C>T
- p.(Gly217Glu) Gly (gga) > Glu (gaa) predicted - STRA6_00036 650 DNA SEQ - GCCTCG G A ATTCCT Substitution - - - White 2008 [19112531] Subject 11 Anophthalmia and kidney defects White 2008 [19112531], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Caucasian female - Sporadic - - - Bilateral anophthalmia; duplicated kidney collecting system. No heart, lung or diaphragm defects -
+/+ 10 Exon - - c.859C>T
    + c.1090+1G>A
- p.(Gln287*) Gln (cag) > ter (uag) predicted. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00043 859 DNA SEQ - ACTCCA C T AGCCAG Substitution - - - Chassaing 2009 [19309693] Case 1 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated 1 - male - Sporadic - - - Bilateral severe microphthalmia; bilateral diaphragmatic hernia; complex heart malformation; hypoplastic lungs -
+/+ 11 Exon - - c.878C>T
    + c.878C>T
- p.(Pro293Leu) Pro (ccg) > Leu (cug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00001 878 DNA SEQ - ATCTCC C T GCTGAA Substitution - - - Pasutto 2007 [17273977] Fam1-IV:2 STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Cousin of proband (IV:4, also from a consanguineous union) had bilateral anophthalmia and died age 2d from a congenital heart defect. 1 Turkish female Familial - - - - Bilateral anophthalmia; persistent ductus arteriosus; alveolar capillary dysplasia; right sided pelvic kidney; mild facial dysmorphism. Died age 6 months. -
+/+ 11 Exon - - c.878C>T
    + c.878C>T
- p.(Pro293Leu) Pro (ccg) > Leu (cug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00002 878 DNA SEQ - ATCTCC C T GCTGAA Substitution - - - Pasutto 2007 [17273977] Fam1-IV:2 STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Cousin of proband (IV:4, also from a consanguineous union) had bilateral anophthalmia and died age 2d from a congenital heart defect. 1 Turkish female Familial - - - - Bilateral anophthalmia; persistent ductus arteriosus; alveolar capillary dysplasia; right sided pelvic kidney; mild facial dysmorphism. Died age 6 months. -
+/+ 11 Exon - - c.878C>T
    + c.50_52delACTinsCC
- p.(Pro293Leu) Pro (ccg) > Leu (cug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00073 878 DNA SEQ - ATCTCC C T GCTGAA Substitution - - - Sadowski 2017 [28398665] Sadowski et al (2017) Matthew-Wood syndrome [28398665], United Kingdom (Great Britain):Edinburgh DNA SEQ Infant is a compound heterozygote for a paternally inherited missense mutation and a maternally inherited frameshift mutation. 1 - male Familial Sporadic - - - Bilateral anophthalmia, agenesis of the left lung, heart defects, kidney defects. Infant died 1 hr after birth. -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00052 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 1 IV:1 Colobomatous microanophthalmia Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Other affected family members (homozygous for same mutation) have isolated ocular anomalies including microphthalmia, choroidal coloboma and anophthalmia 1 Irish traveller male Familial - - - - Right microphthalmia; left iris coloboma. Patient alive at age 16 years. No non-ocular malformations or developmental delay -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00053 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 1 IV:1 Colobomatous microanophthalmia Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Other affected family members (homozygous for same mutation) have isolated ocular anomalies including microphthalmia, choroidal coloboma and anophthalmia 1 Irish traveller male Familial - - - - Right microphthalmia; left iris coloboma. Patient alive at age 16 years. No non-ocular malformations or developmental delay -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00054 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 2 II:2 Microphthalmia and kidney defects Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents both heterozygous for the mutant allele 1 Irish traveller male Familial Sporadic - - - Severe bilateral microphthalmia; dysplastic right kidney -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00055 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 2 II:2 Microphthalmia and kidney defects Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents both heterozygous for the mutant allele 1 Irish traveller male Familial Sporadic - - - Severe bilateral microphthalmia; dysplastic right kidney -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00056 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 3 II:2 Matthew-Wood syndrome Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents (not tested). An elder brother (not tested) reportedly had isolated bilateral anophthalmia 1 Irish traveller female - Sporadic - - - Bilateral anophthalmia; absent pulmonary valves; polysplenia; absent uterus; hydronephrosis; ureterocoeles -
+/+ 11 Exon - - c.910_911delGGinsAA
    + c.910_911delGGinsAA
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00057 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792] Pedigree 3 II:2 Matthew-Wood syndrome Casey 2011 [21901792], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents (not tested). An elder brother (not tested) reportedly had isolated bilateral anophthalmia 1 Irish traveller female - Sporadic - - - Bilateral anophthalmia; absent pulmonary valves; polysplenia; absent uterus; hydronephrosis; ureterocoeles -
?/- 12 Exon - - c.961A>C
    + c.269C>T, c.269C>T, c.961A>C
- p.(Thr321Pro) Thr (acu) > Pro (ccu) predicted No loss of vitamin A uptake (Kawaguchi PMID 18387951). Probably a neutral change. STRA6_00009 961 DNA SEQ 0/190 GTACCC A C CTATCC Substitution - - - Pasutto 2007 [17273977] [18387951] MWS6-BK STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Parental samples unavailable; the second allele in the patient could therefore be a deletion. 1 Pakistani female - Sporadic - - - Bilateral anopththalmia; hypoplastic lungs; congenital diaphragmatic hernia; patent ductus arteriosus; hypoplastic kidneys; bicornuate uterus; Meckel diverticulum. Died at 1 day. -
?/- 12 Exon - - c.961A>C
    + c.269C>T, c.269C>T, c.961A>C
- p.(Thr321Pro) Thr (acu) > Pro (ccu) predicted No loss of vitamin A uptake (Kawaguchi PMID 18387951). Probably a neutral change. STRA6_00010 961 DNA SEQ 0/190 GTACCC A C CTATCC Substitution - - - Pasutto 2007 [17273977] [18387951] MWS6-BK STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Parental samples unavailable; the second allele in the patient could therefore be a deletion. 1 Pakistani female - Sporadic - - - Bilateral anopththalmia; hypoplastic lungs; congenital diaphragmatic hernia; patent ductus arteriosus; hypoplastic kidneys; bicornuate uterus; Meckel diverticulum. Died at 1 day. -
+/+ 12 Intron IVS12+1G>A - c.1090+1G>A
    + c.859C>T
r.spl? p.? Splice error expected Effect on protein expected, but difficult to predict STRA6_00042 1090 DNA SEQ - TGGAAG/ G A TGAGGC Substitution - - - Chassaing 2009 [19309693] Case 1 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated 1 - male - Sporadic - - - Bilateral severe microphthalmia; bilateral diaphragmatic hernia; complex heart malformation; hypoplastic lungs -
+/+ 13 Exon - - c.1120T>C
    + Deletion of exons 16-18
- p.(Cys374Arg) Cys (ugc) > Arg (cgc) predicted Missense change in middle of 7th predicted transmembrane domain STRA6_00060 1120 DNA SEQ - TTGTCC T C GCTTAC Substitution - - - - Case 10 Bilateral anophthalmia Chassaing 2012 [22686418], United Kingdom (Great Britain):Edinburgh DNA SEQ Child inherited a missense mutation from his healthy mother and an intragenic deletion from his healthy father. Paternal grandfather with intragenic deletion had congenital cataract. 1 - male Familial Sporadic - - - Bilateral anophthalmia, tetralogy of Fallot, left inguinal hernia, short stature, small kidneys, renal insufficiency. Development normal for a visually impaired child. -
-/- 13 Intron IVS13+32G>A - c.1166+32G>A r.(=) - No RNA change predicted - STRA6_00034 1166 DNA SEQ - AGCGCC G A AGGTGG Substitution - - - Golzio 2007 [17503335] Fetus 6 Heart/lung/diaphragm defects Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ No eye anomalies - phenotype differs from STRA6 spectrum. Pathological mutation probably lies elsewhere. 1 - - - - - - - Congenital defects of lungs, diaphragm, heart and kidneys; intrauterine growth retardation -
-?/-? 13 Intron IVS13-10C>G - c.1167-10C>G r.(?) - Substitution in splice acceptor - effect unknown but seems to be a fairly common SNP - STRA6_00035 1167 DNA SEQ - CTGGCT C G CCACCC Substitution - - rs2277608 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 7 Lung/heart/kidney defects Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ No eye defects - phenotype differs from STRA6 spectrum. Pathological mutation probably lies elsewhere 1 - - - - - - - Congenital defects of lungs, heart and kidneys -
?/? 14 Exon - - c.1223G>A - p.(Arg408Gln) Arg (cgg) > Gln (cag) predicted - STRA6_00068 1223 DNA SEQ - TGCATC G A GAGTCC Substitution - - Mutation reported but no data shown [25457163] Slavotinek 2015 Microphthalmia [25457163], United Kingdom (Great Britain):Edinburgh DNA SEQ Mutation inherited from mother, who also had bilateral microphthalmia. Second mutation not found 1 - - Familial Familial - - - Bilateral microphthalmia and coloboma, unilateral retinal detachment, right-sided aortic arch, vascular ring and intellectual disability -
-/- 14 Intron IVS14-44A>C c.1301-43A>C c.1301-44A>C
    + c.596+9T>G, c.1416G>A
- - Effect unknown - STRA6_00032 1301 DNA SEQ - GTTTTC A C TGGAAC Substitution - - rs351240 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 5 Congenital defects of lungs, diaphragm and aorta Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Foetus has 3 heterozygous STRA6 variants, none of which appears pathological. Eyes unaffected - phenotype does not match STRA6 spectrum. 1 - - - - - - - Congenital defects of lungs, diaphragm and aorta; single umbilical artery -
+/+ 15 Exon - - c.1313A>G
    + c.1913G>C
- p.(Gln438Arg) Gln (cag) > Arg (cgg) predicted Substitution of highly conserved glutamine STRA6_00046 1313 DNA SEQ - TGGTGC A G GCAGAT Substitution - - - Chassaing 2009 [19309693] Case 3-1 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated. A sister (3-2; died age 1 day) had tetralogoy of Fallot and bilateral anophthalmia. A brother (3-3; alive in adulthood; same mutations) has extreme microphthalmia, severe mental retardation; short stature; spina bifida occulta 1 - male Familial - - - - Bilateral anophthalmia; tetralogy of Fallot; facial dysmorphism. Moderate mental retardation. Alive age 40 -
+/+ 15 Exon - c.1329delC c.1330delC
    + c.1330delC
- p.(Leu444Trpfs*34) Frame-shifting deletion predicted. PTC created: NMD possible Protein synthesis unlikely if NMD occurs STRA6_00048 1330 DNA SEQ - TTCTTC C - TGGGAA Deletion - - - Chassaing 2009 [19309693] Case 4-2 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Brother (4-1; died soon after birth) had bilateral anophthalmia, diaphragmatic hernia and complex heart malformation. 1 - male - - - - - Bilateral anophthalmia; hypoplastic left lung. Died soon afte birth -
+/+ 15 Exon - c.1329delC c.1330delC
    + c.1330delC
- p.(Leu444Trpfs*34) Frame-shifting deletion predicted. PTC created: NMD possible Protein synthesis unlikely if NMD occurs STRA6_00049 1330 DNA SEQ - TTCTTC C - TGGGAA Deletion - - - Chassaing 2009 [19309693] Case 4-2 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. Brother (4-1; died soon after birth) had bilateral anophthalmia, diaphragmatic hernia and complex heart malformation. 1 - male - - - - - Bilateral anophthalmia; hypoplastic left lung. Died soon afte birth -
-/- 15 Exon - - c.1416G>A
    + c.596+9T>G, c.1301-44A>C
- p.(=) Ser (ucg) Ser (uga) predicted No change STRA6_00033 1416 DNA SEQ - GTCCTC G A TG/GTGA Substitution - - rs351241 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 5 Congenital defects of lungs, diaphragm and aorta Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Foetus has 3 heterozygous STRA6 variants, none of which appears pathological. Eyes unaffected - phenotype does not match STRA6 spectrum. 1 - - - - - - - Congenital defects of lungs, diaphragm and aorta; single umbilical artery -
+/+ 16 - - - Deletion of exons 16-18
    + c.1120T>C
- - Deletion predicted Outcome unknown STRA6_00061 - DNA mPCR - - - - - Deletion - - - - Case 10 Bilateral anophthalmia Chassaing 2012 [22686418], United Kingdom (Great Britain):Edinburgh DNA SEQ Child inherited a missense mutation from his healthy mother and an intragenic deletion from his healthy father. Paternal grandfather with intragenic deletion had congenital cataract. 1 - male Familial Sporadic - - - Bilateral anophthalmia, tetralogy of Fallot, left inguinal hernia, short stature, small kidneys, renal insufficiency. Development normal for a visually impaired child. -
+/+ 16 Intron IVS16-1G>A - c.1521-1G>A
    + c.1521-1G>A
r.spl? p.? Mutation abolishes splice acceptor - splice defect expected Outcome unknown STRA6_00062 1521 DNA SEQ - ATCCTA G A /GCGAGT Substitution - - - - Case 22 PDAC syndrome Chassaing 2012 [22686418], United Kingdom (Great Britain):Edinburgh DNA SEQ Healthy consanguineous parents both heterozygous. An elder sister of the proband died shortly after birth with eye, lung and heart defects (mutation status unknown) 1 - male Familial Sporadic - - - Fetus had bilateral anophthalmia, bilateral diaphragmatic eventration, bilateral lung agenesis, hypoplastic left atrium and hypoplastic pulmonary arteries, polysplenia. -
+/+ 16 Intron IVS16-1G>A - c.1521-1G>A
    + c.1521-1G>A
r.spl? p.? Mutation abolishes splice acceptor - splice defect expected Outcome unknown STRA6_00063 1521 DNA SEQ - ATCCTA G A /GCGAGT Substitution - - - - Case 22 PDAC syndrome Chassaing 2012 [22686418], United Kingdom (Great Britain):Edinburgh DNA SEQ Healthy consanguineous parents both heterozygous. An elder sister of the proband died shortly after birth with eye, lung and heart defects (mutation status unknown) 1 - male Familial Sporadic - - - Fetus had bilateral anophthalmia, bilateral diaphragmatic eventration, bilateral lung agenesis, hypoplastic left atrium and hypoplastic pulmonary arteries, polysplenia. -
-/- 16 Exon - - c.1581G>A
    + c.331C>T
- p.(Met527Ile) Met (aug) > Ile (aua) predicted Common variant creates non-synonymous substitution. Functionally normal (Kawaguchi PMID 18387951) STRA6_00039 1581 DNA SEQ - TGCCAT G A GTGGCC Substitution - - Observed in 1/4 controls and 5/18 patients White 2008 [19112531] [18387951] Control 4 None White 2008 [19112531], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - - - - - - - Healthy control -
+/+ 17 Exon - - c.1662delG
    + c.1662delG
- p.(Arg555Glufs*16) Frame-shifting deletion predicted. PTC created; NMD possible Protein synthesis unlikely if NMD occurs STRA6_00044 1662 DNA SEQ - GCCACC G - AGAGCC Deletion - - - Chassaing 2009 [19309693] Case 2 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents 1 - female - Sporadic - - - Bilateral anophthalmia; heart malformation; subglottic laryngeal stenosis; unilobar lungs; hypoplastic left kidney; supernumerary spleen; hypoplastic uterus. Died at 19 months -
+/+ 17 Exon - - c.1662delG
    + c.1662delG
- p.(Arg555Glufs*16) Frame-shifting deletion predicted. PTC created; NMD possible Protein synthesis unlikely if NMD occurs STRA6_00045 1662 DNA SEQ - GCCACC G - AGAGCC Deletion - - - Chassaing 2009 [19309693] Case 2 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents 1 - female - Sporadic - - - Bilateral anophthalmia; heart malformation; subglottic laryngeal stenosis; unilobar lungs; hypoplastic left kidney; supernumerary spleen; hypoplastic uterus. Died at 19 months -
+/+ 17 Exon - - c.1678G>C
    + c.1964G>A
- p.(Asp560His) Asp (gac) > His (cac) predicted - STRA6_00050 1678 DNA SEQ - ACTCTC G C ACCCCG Substitution - - - Segel 2009 [19839040] Segel et al PDAC syndrome Segel 2009 [19839040], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated 1 - female Familial Sporadic - - - Bilateral anophthalmia; patent ductus arteriosus. No developmental delay. Alive at 1 year -
+/+ 17 Intron IVS17+1G>A - c.1684+1G>A
    + c.52delT
r.spl? - Splicing error highly likely - STRA6_00067 1684 DNA SEQ - ACCCG/ G A TAAGG Substitution - - Mutation reported but no data shown [25457163] Slavotinek 2015 Microphthalmia [25457163], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 - male Familial - - - - Bilateral microphthalmia -
-/- 17 Intron IVS17-24T>C - c.1685-24T>C
    + 13 others
r.(=) - No known effect on RNA - STRA6_00027 1685 DNA SEQ - CCAGCA T C TGCCAT Substitution - - rs12913041 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 17 Intron IVS17-24T>C - c.1685-24T>C
    + 13 others
r.(=) - No known effect on RNA - STRA6_00028 1685 DNA SEQ - CCAGCA T C TGCCAT Substitution - - rs12913041 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
+/+ 18 Exon - - c.1699C>T
    + c.120dupG
- p.(Arg567*) Nonsense mutation predicted Arg (cga) > Ter (tga). NMD likely Protein synthesis unlikely STRA6_00065 1699 DNA SEQ - ACGTAC C T GAAACT Substitution - - - - 3279 Anophthalmia (24498598), United Kingdom (Great Britain):Edinburgh DNA SEQ Proband has bilateral anophthalmia but is otherwise very mildly affected 1 - male Familial Sporadic Yes No - Bilateral anophthalmia, reduced left lung capacity. Development otherwise normal -
+/+ 18 Exon - - c.1774C>T
    + c.650G>A
- p.(Gln592*) Gln (cag) > ter (uag) predicted. PTC is close to limit for NMD Truncated protein may be synthesised if NMD does not occur STRA6_00037 1774 DNA SEQ - CAAGCG C T AGAGCC Substitution - - - White 2008 [19112531] Subject 11 Anophthalmia and kidney defects White 2008 [19112531], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Caucasian female - Sporadic - - - Bilateral anophthalmia; duplicated kidney collecting system. No heart, lung or diaphragm defects -
-/- 18 Intron IVS18+50T>C - c.1840+50T>C
    + 13 others
r.(=) - No known effect on RNA - STRA6_00029 1840 DNA SEQ - TTCTTC T C AGGAAG Substitution - - rs12912578 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
-/- 18 Intron IVS18+50T>C - c.1840+50T>C
    + 13 others
r.(=) - No known effect on RNA - STRA6_00030 1840 DNA SEQ - TTCTTC T C AGGAAG Substitution - - rs12912578 in dbSNP Golzio 2007 [17503335] dbSNP Fetus 4 Unilateral anophthalmia, CHD Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh DNA SEQ Affected foetus has 7 STRA6 variants, all homozygous but none obviously pathological. Underlying mutation probably lies elsewhere. 1 - - - - - - - Unilateral anophthalmia; congenital heart defect; arhinencephaly -
+/+ 19 Exon - - c.1913G>C
    + c.1313A>G
- p.(Arg638Pro) Arg (cgc) > Pro (ccc) predicted Substitution of highly conserved arginine STRA6_00047 1913 DNA SEQ - GGGCTC G C CTGGGG Substitution - - - Chassaing 2009 [19309693] Case 3-1 MCOPS9 Chassaing 2009 [19309693], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated. A sister (3-2; died age 1 day) had tetralogoy of Fallot and bilateral anophthalmia. A brother (3-3; alive in adulthood; same mutations) has extreme microphthalmia, severe mental retardation; short stature; spina bifida occulta 1 - male Familial - - - - Bilateral anophthalmia; tetralogy of Fallot; facial dysmorphism. Moderate mental retardation. Alive age 40 -
+/+ 19 Exon - - c.1931C>T
    + c.1931C>T
- p.(Thr644Met) Thr (acg) > Met (aug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00008 1931 DNA SEQ 0/190 CCTACA C T GCTGCT Substitution - - - Pasutto 2007 [17273977] [18387951] MWS4-BE STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ A brother (untested, died at 1 day old) had lung, heart and urogenital defects (eye phenotype unknown). A sister (untested, died at 1 day old) had bilateral anophthalmia and congenital defects of the lungs, heart and uterus. 1 - female Familial - - - - Bilateral anophthalmia; hypoplastic lungs; congenital diaphragmatic hernia; hydronephrosis. Patient was alive at age 3 months. -
+/+ 19 Exon - - c.1931C>T
    + c.49_52dupGACT
- p.(Thr644Met) Thr (acg) > Met (aug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00059 1931 DNA SEQ 0/190 CCTACA C T GCTGCT Substitution - - - Ng 2012 [22283518] [18387951] Patient II.1 MCOPS9 Ng 2012 [22283518], United Kingdom (Great Britain):Edinburgh DNA SEQ Heterozygous sister (II.3; p.Tyr18*/+) has right optic disc coloboma, left iris coloboma and left microphthalmia. Another sister (II.4; untested, died aged 3.5 months) had bilateral microphthalmia, lung hypoplasia and CHD. Heterozygous mother (p.Thr644Met/+) has posterior embryotoxon. 1 - male Familial - - - - Bilateral anophthalmia; tetralogy of Fallot. Died aged 7 weeks -
+/+ 19 Exon - - c.1963C>T
    + c.1963C>T
- p.(Arg655Cys) Arg (cgc) > Cys (ugc) predicted Alters invariant arginine in protein kinase A phosphorylation site. Abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00005 1963 DNA SEQ 0/190 GTCTTC C T GCAAGA Substitution - - - Pasutto 2007 [17273977] [18387951] MWS1-EE STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. A brother (not tested) had bilateral anophthalmia, congenital heart defects and short stature (died at 22 months) 1 - male Familial - - - - Bilateral anophthalmia; hypoplastic lungs; diaphragmatic eventration; inguinal hernia; severe hypotonia; failure to thrive. Died at 3 months -
+/+ 19 Exon - - c.1963C>T
    + c.1963C>T
- p.(Arg655Cys) Arg (cgc) > Cys (ugc) predicted Alters invariant arginine in protein kinase A phosphorylation site. Abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00006 1963 DNA SEQ 0/190 GTCTTC C T GCAAGA Substitution - - - Pasutto 2007 [17273977] [18387951] MWS1-EE STRA6 anophthalmia syndrome Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh DNA SEQ Consanguineous parents. A brother (not tested) had bilateral anophthalmia, congenital heart defects and short stature (died at 22 months) 1 - male Familial - - - - Bilateral anophthalmia; hypoplastic lungs; diaphragmatic eventration; inguinal hernia; severe hypotonia; failure to thrive. Died at 3 months -
+/+ 19 Exon - - c.1964G>A
    + c.1678G>C
- p.(Arg655His) Arg (cgc) > His (cac) predicted - STRA6_00051 1964 DNA SEQ - GTCTTC C T GCAAGA Substitution - - - Segel 2009 [19839040] Segel et al PDAC syndrome Segel 2009 [19839040], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents unrelated 1 - female Familial Sporadic - - - Bilateral anophthalmia; patent ductus arteriosus. No developmental delay. Alive at 1 year -
1 - 73

Legend: [ STRA6 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. Location: Variant location at DNA level. Legacy DNA ID: Legacy DNA ID DNA published: What the variant was reported as. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RNA information: RNA information Protein information: Protein information STRA6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Base number: Nucleotide number Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism. 5' Sequence Context: 5' sequence context Original Sequence: Original (wild type) sequence Variant Sequence: Variant Sequence 3' Sequence Context: 3' Sequence context Type: Type of variant at DNA level. Domain: Protein Domain RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Remarks: Remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype