Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.

ABSTRACT:

Background

Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and new research strategies are needed. In this study, we used linkage-exome combinational analysis to further investigate the pedigree of a four-generation Chinese family with autosomal dominant coralliform cataract.

Methods

We combined whole exome sequencing and linkage analysis to identify the causative mutation. The exome capture and next-generation sequencing were used to sequence the protein-coding regions in the genome of the proband to identify rare mutations, which were furthe

SUBMITTER: Jia X 

PROVIDER: S-EPMC3851584 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature