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NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs) AND Microphthalmia syndromic 9

Significance: Pathogenic
ClinVar: RCV000001198

Variant: NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs)

Type: Variant
Allele: NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs) 16178
Gene:
Type: Indel
Location: Chr15: 74494557 - 74494559 - assembly GRCh37
Chr15: 74202216 - 74202218 - assembly GRCh38
References: dbSNP: 606231126
OMIM: 610745.0007

Condition

Disease: Microphthalmia syndromic 9

Citation

    In a fetus considered to have the Matthew-Wood syndrome (MCOPS9; 601186), the child of consanguineous Romanian parents, Golzio et al. (2007) found homozygosity for an insertion/deletion in exon 2 of the STRA6 gene (50_52delACTinsCC) that resulted in frameshift and premature termination of the protein (Asp17alafsTer55). An older brother with isolated coloboma of the retina and iris was heterozygous for the mutation, as were the clinically unaffected parents. Intrauterine death in the proband occurred at 31 weeks' gestation. The anatomic findings included bilateral anophthalmia, bilateral agenesis of the lungs, bilateral eventration of the diaphragm, bilateral absence of pulmonary artery branches, duodenal stenosis, and annular pancreas.
PMID:17503335