Exome analysis of a family with pleiotropic congenital heart disease.

ABSTRACT:

Background

A number of single gene defects have been identified in patients with isolated or nonsyndromic congenital heart defects (CHDs). However, due to significant genetic heterogeneity, candidate gene approaches have had limited success in finding high-risk alleles in most cases. The purpose of this study was to use exome sequencing to identify high-risk gene variants in a family with highly penetrant pleiotropic CHD.

Methods and results

DNA samples from 2 members of a family with diverse CHD were analyzed by exome sequencing. Variants were filtered to eliminate common variants and sequencing artifacts and then prioritized based on the predicted effect of the variant and on gene function. The remainder of the family was screened using polymerase chain reaction, high-reso

SUBMITTER: Arrington CB 

PROVIDER: S-EPMC3329568 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature