The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

ABSTRACT:

Background

Although most cases of atrial septal defect (ASD) are sporadic, familial cases have been reported, which may be caused by mutation of transcription factor GATA binding protein 4 (GATA4). Herein we combined whole-exome sequencing and bioinformatics strategies to identify a novel mutation in GATA4 accounting for the etiology in a Chinese family with ASD.

Methods

We identified kindred spanning 3 generations in which 3 of 12 (25.0%) individuals had ASD. Punctilious records for the subjects included complete physical examination, transthoracic echocardiography, electrocardiograph and surgical confirming. Whole-exome capture and high-throughput sequencing were performed on the proband III.1. Sanger sequencing was used to validate the candidate variants, and segregation

SUBMITTER: Bu H 

PROVIDER: S-EPMC7788758 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature