Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.

ABSTRACT:

Background

Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing.

Methods

Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing. Tetralogy of Fallot-related genes were determined by analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases.

Results

A total of sixteen differential single nucleotide polymorphisms loci and eight differential small

SUBMITTER: Liu L 

PROVIDER: S-EPMC5739789 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature