Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families.

Methods

First, we performed direct Sanger sequencing of 7 LCA disease genes in 81 LCA families. Next, we developed a capture panel that enriches the entire coding exons and splicing sites of 163 known retinal disease genes and other candidate retinal disease genes. The capture panel allowed us to quickly identify disease-causing mutations in a large number of genes at a relatively low cost. Thus, this method was applied to the 53 LCA families that were unsolved by direct Sanger sequencing of 7 LCA disease genes and an additional 64 LCA

SUBMITTER: Wang H 

PROVIDER: S-EPMC4466882 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature