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, 34 (3), 202-7

[Analysis of MYH7, MYBPC3 and TNNT2 Gene Mutations in 10 Chinese Pedigrees With Familial Hypertrophic Cardiomyopathy and the Correlation Between Genotype and Phenotype]

[Article in Chinese]
Affiliations
  • PMID: 16630449

[Analysis of MYH7, MYBPC3 and TNNT2 Gene Mutations in 10 Chinese Pedigrees With Familial Hypertrophic Cardiomyopathy and the Correlation Between Genotype and Phenotype]

[Article in Chinese]
Wen-ling Liu et al. Zhonghua Xin Xue Guan Bing Za Zhi.

Abstract

Objective: The aim of this study was to screen the disease-causing gene mutations and investigate the genotype-phenotype correlation in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy (HCM).

Methods: There are 91 family members from these 10 pedigrees and 5 members were normal mutated carriers, 23 members were HCM patients (14 male) aged from 1.5 to 73 years old. The functional regions of myosin heavy chain gene (MYH7), cardiac myosin-binding protein C (MYBPC3) and cardiac troponin T gene (TNNT2) were screened with PCR and direct sequencing technique. Clinical information from all patients was also evaluated in regard to the genotype.

Results: Mutations were found in 5 out of 10 pedigrees. Mutations in MYH7 (Arg663His, Glu924Lys and Ile736Thr) were found in 3 pedigrees and 3 patients from these pedigrees suffered sudden death at age 20-48 years old during sport. Mutations in MYBPC3 were found in 2 pedigrees, 1 with complex mutation (Arg502Trp and splicing mutation IVS27 + 12C > T) and 1 with novel frame shift mutation (Gly347fs) and the latter pedigree has sudden death history. No mutation was identified in TNNT2.

Conclusions: Although the Han Chinese is a relatively homogeneous ethnic group, different HCM gene mutations were responsible for familiar HCM suggesting the heterogeneity nature of the disease-causing genes and HCM MYH7 mutations are associated with a higher risk of sudden death in this cohort. Furthermore, identical mutation might result in different phenotypes suggesting that multiple factors might be involved in the pathogenesis of familiar HCM.

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