Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

ABSTRACT:

Background

Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports.

Methods

A comprehensive genotyping examination including copy number variation sequencing (CNV-Seq) and whole-exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non-compaction (LVNC).

Results

No aneuploidy o

SUBMITTER: Sun H 

PROVIDER: S-EPMC7507429 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature