Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
BACKGROUND
There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown.


METHODS
We investigated 100 independent patients with HCM (proband 51, sporadic 49) by sequencing the three most frequent HCM-causing genes (MYH7, MYBPC3, TNNT2).


RESULTS
Thirty-four patients (34%) carried 25 types of mutations in the selected genes, most (14/25) were newly identified. MYH7 and MYBPC3 accounted for 41% and 18% of the familial HCM, respectively. TNNT2 mutations only caused 2% of the familial HCM. These results suggested that MYH7 and MYBPC3 were the predominant genes responsible for HCM, and TNNT2 mutation less proportionally contributed to Chinese HCM. MYH7 mutations caused HCM at younger age, more frequent syncope and ECG abnormalities compared with MYBPC3 mutations. The patients carrying R663C, Q734P, E930K in MYH7 and R130C in TNNT2 expressed malignant phenotype. R403Q in MYH7, the most common hot and malignant mutation in Caucasians, was not identified in Chinese.


CONCLUSIONS
We confirmed the diversity of mutation profile in different populations and suggest that a global registry of HCM mutations and their phenotypes is necessary to correlate genotype with phenotype.
Song
Lei
L
Sino-German Laboratory for Molecular Medicine, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Zou
Yubao
Y
Wang
Jizheng
J
Wang
Zhimin
Z
Zhen
Yisong
Y
Lou
Kejia
K
Zhang
Qian
Q
Wang
Xiaojian
X
Wang
Hu
H
Li
Jia
J
Hui
Rutai
R
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004452:Echocardiography; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D010641:Phenotype