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NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met) AND Microphthalmia syndromic 9

Significance: Pathogenic
ClinVar: RCV000001195

Variant: NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met)

Type: Variant
Allele: NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met) 16175
Gene:
Type: single nucleotide variant
Location: Chr15: 74472494 - assembly GRCh37
Chr15: 74180153 - assembly GRCh38
References: dbSNP: 118203960
OMIM: 610745.0004
UniProtKB: Q9BX79#VAR_037174

Condition

Disease: Microphthalmia syndromic 9

Citation

    In a female infant (MWS4-BE) with bilateral clinical anophthalmia, right diaphragmatic hernia, pulmonary hypoplasia, and bilateral hydronephrosis (MCOPS9; 601186), Pasutto et al. (2007) identified homozygosity for a 1931C-T transition in exon 20 of the STRA6 gene, resulting in a thr644-to-met (T644M) substitution. The unaffected parents were not known to be related. An earlier male sib had died at 24 hours of age with pulmonary hypoplasia and unilobar left lung, tetralogy of Fallot, patent ductus arteriosus, undescended testes, horseshoe kidney, and hypoplastic renal arteries; an earlier female sib died within 24 hours of birth with bilateral clinical anophthalmia, pulmonary hypoplasia with unilobar lungs, patent ductus arteriosus, coarctation of the aorta, and uterine dysplasia.
PMID:17273977