Molecular Biology Reports

, Volume 40, Issue 6, pp 3969–3976

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy

  • Yubao Zou
  • Jizheng Wang
  • Xuan Liu
  • Yilu Wang
  • Yi Chen
  • Kai Sun
  • Shuo Gao
  • Channa Zhang
  • Zhimin Wang
  • Yin Zhang
  • Xinxing Feng
  • Ying Song
  • Yajie Wu
  • Hongju Zhang
  • Lei Jia
  • Hu Wang
  • Dong Wang
  • Chaowu Yan
  • Minjie Lu
  • Xianliang Zhou
  • Lei Song
  • Rutai Hui
Article

DOI: 10.1007/s11033-012-2474-2

Cite this article as:
Zou, Y., Wang, J., Liu, X. et al. Mol Biol Rep (2013) 40: 3969. doi:10.1007/s11033-012-2474-2

Abstract

Genotype-phenotype correlation of hypertrophic cardiomyopathy (HCM) has been challenging because of the genetic and clinical heterogeneity. To determine the mutation profile of Chinese patients with HCM and to correlate genotypes with phenotypes, we performed a systematic mutation screening of the eight most commonly mutated genes encoding sarcomere proteins in 200 unrelated Chinese adult patients using direct DNA sequencing. A total of 98 mutations were identified in 102 mutation carriers. The frequency of mutations in MYH7, MYBPC3, TNNT2 and TNNI3 was 26.0, 18.0, 4.0 and 3.5 % respectively. Among the 200 genotyped HCM patients, 83 harbored a single mutation, and 19 (9.5 %) harbored multiple mutations. The number of mutations was positively correlated with the maximum wall thickness. We found that neither particular gene nor specific mutation was correlated to clinical phenotype. In summary, the frequency of multiple mutations was greater in Chinese HCM patients than in the Caucasian population. Multiple mutations in sarcomere protein may be a risk factor for left ventricular wall thickness.

Keywords

Hypertrophic cardiomyopathyMultiple gene mutationsLeft ventricular hypertrophy

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Yubao Zou
    • 1
  • Jizheng Wang
    • 2
  • Xuan Liu
    • 2
  • Yilu Wang
    • 2
  • Yi Chen
    • 3
  • Kai Sun
    • 2
  • Shuo Gao
    • 2
  • Channa Zhang
    • 2
  • Zhimin Wang
    • 4
  • Yin Zhang
    • 1
  • Xinxing Feng
    • 1
  • Ying Song
    • 1
  • Yajie Wu
    • 1
  • Hongju Zhang
    • 4
  • Lei Jia
    • 2
  • Hu Wang
    • 2
  • Dong Wang
    • 1
  • Chaowu Yan
    • 5
  • Minjie Lu
    • 5
  • Xianliang Zhou
    • 6
  • Lei Song
    • 1
    • 6
  • Rutai Hui
    • 1
    • 2
    • 6
  1. 1.Department of CardiologyState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  2. 2.Sino-German Laboratory for Molecular MedicineState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  3. 3.Surgical ICUState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  4. 4.Department of EchocardiographyState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  5. 5.Department of RadiologyState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  6. 6.Hypertension CenterState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China