| Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy |
Authors: Ai-ling Wang, De-hua Kong, Duo-xue Chen, Jun Wan, Yuan-xun Yu |
Affiliations: Department of Cardiogy, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, P.R. China, The Center of Medical Genetics of Anhui Province, Hefei 230031, P.R. China |
Published online on: Tuesday, July 20, 2010 |
Doi: 10.3892/mmr.2010.333 |
Pages: 759-763 |
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. |
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