Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect.
OBJECTIVE
To investigate the possible genetic role of FOXH1 in the pathogenesis of ventricular septal defect (VSD).


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.


RESULTS
Four variants were found among the isolated VSD patients, including one pathogenic mutation (c.659_660ins.C).
Wang
Binbin
B
Yan
Jinting
J
Mi
Rui
R
Zhou
Shiyi
S
Xie
Xiaodong
X
Wang
Jing
J
Ma
Xu
X
D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D015331:Cohort Studies; D051858:Forkhead Transcription Factors / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
C510350:FOXH1 protein, human; D051858:Forkhead Transcription Factors