[Novel Val606Met mutation in beta myosin heavy chain gene in Chinese pedigrees with familiar hypertrophic cardiomyopathy].

Objective: To screen the disease-causing gene mutation in Chinese patients with familiar hypertrophic cardiomyopathy (HCM) and to analyse the correlation between the genotype and phenotype.
Methods: Eight Chinese pedigrees with HCM and 80 age-matched normal control subjects were studied. The exons in the functional regions of the beta myosin heavy chain gene (beta-MHC) were amplified with PCR and the products were sequenced. The relation between the genotype and phenotype was analyzed.
Result: Val606Met mutation was identified in exon 16 in one family and Val606Met mutation was identified in 4 out of 8 family members in this pedigree and 3 out of 4 Val606Met carriers suffered from HCM. No similar mutation was identified in controls.
Conclusion: The Val606Met mutation located at the actin-binding region of the cardiac beta-MHC gene is involved in the pathogenesis of HCM in this Chinese pedigree.