Human Genetics

, Volume 130, Issue 5, pp 657–662

Two novel mutations of the IRX4 gene in patients with congenital heart disease

  • Zhi Cheng
  • Jing Wang
  • Dongmei Su
  • Hong Pan
  • Guoying Huang
  • Xiaotian Li
  • Zhongzhi Li
  • Adong Shen
  • Xiaodong Xie
  • Binbin Wang
  • Xu Ma
Original Investigation

DOI: 10.1007/s00439-011-0996-7

Cite this article as:
Cheng, Z., Wang, J., Su, D. et al. Hum Genet (2011) 130: 657. doi:10.1007/s00439-011-0996-7

Abstract

IRX4 was the first identified cardiac transcription factor that is restricted to the ventricles at all stages of heart development. Irx4-deficient mice show ventricular dysfunction and develop cardiomyopathy. To study the potential impact of sequence variations in IRX4 on congenital heart disease (CHD) in humans, we examined the coding region of IRX4 in a cohort of 698 Chinese people with congenital heart disease and 250 healthy individuals as the controls. We found two potential disease-causing mutations, p. Asn85Tyr and p. Glu92Gly. A mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between IRX4 and RXRA. It demonstrated that IRX4 had a potential causative impact on the development of congenital heart disease, particularly ventricular septal defect.

Supplementary material

439_2011_996_MOESM1_ESM.doc (35 kb)
Supplementary material 1 (DOC 35 kb)

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Zhi Cheng
    • 3
    • 1
  • Jing Wang
    • 3
    • 1
  • Dongmei Su
    • 1
  • Hong Pan
    • 1
  • Guoying Huang
    • 4
  • Xiaotian Li
    • 4
  • Zhongzhi Li
    • 5
  • Adong Shen
    • 5
  • Xiaodong Xie
    • 6
  • Binbin Wang
    • 3
    • 1
  • Xu Ma
    • 3
    • 1
    • 2
  1. 1.Center for GeneticsNational Research Institute for Family PlanningBeijingChina
  2. 2.World Health Organization Collaborating Centre for Research in Human ReproductionBeijingChina
  3. 3.Graduate School, Peking Union Medical CollegeBeijingChina
  4. 4.Pediatric Heart Center, Children’s Hospital of Fudan UniversityShanghaiChina
  5. 5.Public Central Laboratory, Beijing Pediatric InstituteBeijing Children’s Hospital affiliated to Capital Medical UniversityBeijingChina
  6. 6.School of Life Science, Lanzhou UniversityLanzhouChina