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

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).