Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.

ABSTRACT:

Purpose

Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the pathogenic mutations in affected members in a Chinese STGD pedigree.

Methods

One patient was selected for whole-exome sequencing. Variants in five candidate genes were identified initially, followed by several filtering steps against public and private variation databases (1000Genomes, ESP6500si, ExAC, and in-house database), as well as bioinformatic analysis of the putative pathogenic roles. Sanger sequencing was used for cosegregation analysis among

SUBMITTER: Zhang J 

PROVIDER: S-EPMC5204459 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature