G2Cdb::Allele report

Mutation type
P

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

  • [The role of mutation in cardiac beta-myosin heavy chain gene in population of patients].

    Seleznev DM, Gabrusenko SA, Parfenova EV, Naumov VG, Stambol'skiĭ DV and Tkachuk VA

    One of most widely spread causes of hypertrophic cardiomyopathy (HCMP) is mutation in cardiac beta-myosin heavy chain gene. Data on contribution of this mutation to development of HCMP in Russian patients are very limited. We conducted screening of beta-myosin heavy chain gene for the presence of mutations in 116 patients with confirmed HCMP (probands). DHPLC was used with subsequent sequencing of DNA fragments. Genetic defects of beta-myosin heavy chain were found more than in every 10-th patient. These defects were represented by 13 mutations (Ala729Pro mutation was found twice). Phenotypes of majority of known mutations in Russian population did not differ substantially from their phenotypes in other populations. Six mutations had not been previously described; most of them were associated with especially severe clinical and hemodynamic signs and relatively unfavorable course of the disease. Thus beta-myosin heavy chain gene mutation play important role in etiology of HCMP in patients in Russia.

    Kardiologiia 2005;45;4;15-20

© 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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