A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.

ABSTRACT:

Background

Leber's congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear, and the majority of cases are caused by autosomal recessive inheritance. In this study, we explored the variant in the Crumbs homologue 1 (CRB1) gene in a Chinese family with LCA.

Methods

We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a Chinese family with LCA. A pathogenic variant was identified by capturing (the panel in NGS) and Sanger sequencing validation.

Results

A nonsense variant (c.1499C>G) in the 6th exon of CRB1 gene in a Chinese family with LCA was iden

SUBMITTER: Duan W 

PROVIDER: S-EPMC9482190 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature