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

Abstract excerpt

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...

Topics

Join the communities discussing this publication.

• Arrhythmias, Cardiac
• Computational Biology
• DNA Mutational Analysis
• Exome Sequencing
• GATA4 Transcription Factor