Two novel HAND1 mutations in Chinese patients with ventricular septal defect

Clin Chim Acta. 2012 Apr 11;413(7-8):675-7. doi: 10.1016/j.cca.2011.10.014. Epub 2011 Oct 18.


Background: The HAND1 gene encodes a basic helix-loop-helix (bHLH) transcription factor which plays an essential role in the development of heart. Mutations in HAND1 have been identified in congenital heart disease (CHD) patients with hypoplastic hearts and septal defects. The spectrum of CHD relating to HAND1 mutations needs further study.

Methods and results: We screened HAND1 coding regions for mutations in 498 Chinese patients with CHD and 250 control subjects. We identified two novel non-synonymous mutations, c.217G>A (p.Gly73Ser) and c.456G>T (p.Lys152Asn), in the patients with ventricular septal defect (VSD). The two mutations were located in HAND1 evolutionarily conserved residues and enhanced the capability of HAND1 to form homodimers.

Conclusions: This is the first report of mutations in the HAND1 gene in Chinese patients with VSD and provides new insight into the etiology of VSD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / chemistry
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • China
  • Heart Septal Defects, Ventricular / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation*
  • Sequence Homology, Amino Acid
  • Two-Hybrid System Techniques


  • Basic Helix-Loop-Helix Transcription Factors
  • helix-loop-helix protein, eHAND