Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal of this study was to determine whether a whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families.

Methods and results

WES was performed on 9 kindreds with familial CHD, 4 with atrial septal defects, 2 with patent ductus arteriosus, 2 with tetralogy of Fallot, and 1 with pulmonary valve dysplasia. Rare variants (<1% minor allele frequency) that segregated with disease were identified by WES, and variants in 69 CHD candidate genes were further analyzed. These selected variants were subjected to in silico analysis to predict pathogenicity and resulted

SUBMITTER: LaHaye S 

PROVIDER: S-EPMC5412122 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature