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Article

A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.

Scientific reports - 3 May 2016

Wang Ye, Du Xinwei, Zhou Zaiwei, Jiang Jun, Zhang Zhen, Ye Lincai, Hong Haifa

Abstract excerpt

The ostium secundum atrial septal defect (ASDII) is the most common type of congenital heart disease and is characterized by a left to right shunting of oxygenated blood caused by incomplete closure of the septum secundum. We identified a familial form of isolated ASDII that affects four individuals in a family of five and shows autosomal dominant inheritance. By whole genome sequencing, we discovered a new...

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Source

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Identifiers

PMID: 27139165
DOI: 10.1038/srep25404
PMCID: PMC4853704

Genes

ACTC1

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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A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.PMID 27139165Read ↗

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