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Article

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.

Gene - 25 Jan 2014

Xiang Rong, Fan Liang-Liang, Huang Hao, Cao Bei-Bei, Li Xiang-Ping, Peng Dao-Quan, Xia Kun

Abstract excerpt

Congenital heart disease (CHD) is the most common birth defect in humans, and the etiology of most CHD remains to be elusive. Atrial septal defect (ASD) makes up 30–40% of all adult CHDs and is thought to be genetically heterogeneous. Previous studies have demonstrated that mutations in transcription factors e.g. NKX2.5, GATA4, and TBX5 contribute to congenital ASD. In this study, we investigate a family of three...

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Source

Identifiers

PMID: 24498650

Genes

GATA4
TBX5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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