G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00002430 MYH6 Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha

Diseases (1)

Disease Description Nervous effect
D00000235 Hypertrophic cardiomyopathy N

Literature (1)

Pubmed - human_disease

  • [Mutations in beta myosin heavy chain gene: two mutations in Chinese with familial hypertrophic cardiomyopathy and the correlation between the genotype and phenotype].

    Xie WL, Liu WL, Hu DY, Cui W, Zhu TG, Li CL, Sun YH, Li L, Li TC, Bian H and Tong QG

    Department of Cardiology, Second Hospital, Peking University, Beijing 100044, China.

    Objective: To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.

    Methods: Samples of peripheral blood were collected from five Chinese patients with HCM in whose families at least 2 HCM patients existed. The exon 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.

    Results: Two mutations were first identified. Eighty controls were normal in the genetic test.

    Conclusion: beta-MHC may be the main disease-causing gene. Two mutations have different phenotypes. In one family, the identical mutation has different phenotypes and prognoses. The heterogeneity of phenotype suggests that multiple factors be involved in the pathogenesis.

    Zhonghua yi xue za zhi 2004;84;19;1610-3

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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