Mutations profile in Chinese patients with hypertrophic cardiomyopathy

There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown. We investigated 100 independent patients with HCM (proband 51, sporadic 49) by sequencing the three most frequent HCM-causing genes (MYH7, MYBPC3, TNNT2). Thirty-four p...

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Bibliographic Details
Published in:Clinica chimica acta 2005, Vol.351 (1), p.209-216
Main Authors: Song, Lei, Zou, Yubao, Wang, Jizheng, Wang, Zhimin, Zhen, Yisong, Lou, Kejia, Zhang, Qian, Wang, Xiaojian, Wang, Hu, Li, Jia, Hui, Rutai
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Cardiomyopathy, Hypertrophic - epidemiology
Cardiomyopathy, Hypertrophic - genetics
Child
China - epidemiology
Chinese
DNA Mutational Analysis
Echocardiography
Echocardiography, Doppler
Electrocardiography
Exons - genetics
Female
Gene Frequency
Humans
Hypertrophic cardiomyopathy
Male
Mutation
Mutation - genetics
Penetrance
Phenotype
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Summary:There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown. We investigated 100 independent patients with HCM (proband 51, sporadic 49) by sequencing the three most frequent HCM-causing genes (MYH7, MYBPC3, TNNT2). 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. 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.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cccn.2004.09.016