Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration. Six of the 22 known LCA genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA genes, the genetic basis of ~30% of LCA patients remains unknown. We sought to investigate the cause of disease in the remaining 30% by examining cilia-associated genes.

Methods

Whole-exome sequencing was performed on an LCA cohort of 212 unsolved probands previously screened for mutations in known retinal-disease genes. Immunohistochemistry using mouse retinas was used to confirm protein localization and zebrafish were used to perform rescue experiments.

Results

A homozygous nonsynonymous mutation was found in a single proband in CLUAP1, a gene required for ciliogenesis and c

SUBMITTER: Soens ZT 

PROVIDER: S-EPMC4965339 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature