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

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.

journal_name

Mol Med Rep

authors

Wang AL,Kong DH,Chen DX,Wan J,Yu YX

doi

10.3892/mmr.2010.333

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

759-63

issue

5

eissn

1791-2997

issn

1791-3004

journal_volume

3

pub_type

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