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Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy.

作者信息

Wang Ai-Ling, Kong De-Hua, Chen Duo-Xue, Wan Jun, Yu Yuan-Xun

机构信息

Department of Cardiogy, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, P.R. China.

出版信息

Mol Med Rep. 2010 Sep-Oct;3(5):759-63. doi: 10.3892/mmr.2010.333. Epub 2010 Jul 20.

DOI:10.3892/mmr.2010.333
PMID:21472310
Abstract

To investigate the genotype-phenotype correlation in Chinese familial and sporadic hypertrophic cardiomyopathy, specific exons of the myosin binding protein-c gene (MYBPC3) were screened in six families with hypertrophic cardiomyopathy (HCM; FHCM) and in 20 patients with sporadic HCM (SHCM) from the Anhui Province region of China. The V896M mutation was detected for the first time in China in two families with FHCM. The mutation was not found in 100 healthy control subjects. No mutations of MYBPC3 were detected in any of the SHCM patients. In contrast to previous reports, the V896M mutation may be a disease-causing mutation in China, and exon 27 of MYBPC3 may be a mutational hotspot in FHCM patients. However, mutations of MYBPC3 were not prevalent among SHCM patients.

摘要

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