Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect

Binbin Wang; Jinting Yan; Rui Mi; Shiyi Zhou; Xiaodong Xie; Jing Wang; Xu Ma

doi:10.1016/j.ijcard.2009.05.030

Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect

Int J Cardiol. 2010 Nov 5;145(1):83-5. doi: 10.1016/j.ijcard.2009.05.030. Epub 2009 Jun 13.

Authors

Binbin Wang, Jinting Yan, Rui Mi, Shiyi Zhou, Xiaodong Xie, Jing Wang, Xu Ma

PMID: 19525021
DOI: 10.1016/j.ijcard.2009.05.030

Abstract

Objective: To investigate the possible genetic role of FOXH1 in the pathogenesis of ventricular septal defect (VSD).

Patients and methods: 301 VSD Chinese patients and 111 Chinese patients with the other subtypes of congenital heart defects were investigated for mutations in the FOXH1 gene by direct sequencing.

Result: Four variants were found among the isolated VSD patients, including one pathogenic mutation (c.659_660ins.C).

Publication types

Comparative Study
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Asian People / genetics*
Cohort Studies
Forkhead Transcription Factors / genetics*
Genetic Variation / genetics*
Heart Septal Defects, Ventricular / diagnosis
Heart Septal Defects, Ventricular / genetics*
Humans
Molecular Sequence Data
Mutation / genetics

Substances

FOXH1 protein, human
Forkhead Transcription Factors