Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
作者： L Fananapazir , N D Epstein
关键词: Missense mutation 、 Cardiomyopathy 、 Penetrance 、 Medicine 、 Genetics 、 Sudden cardiac death 、 Genotype 、 Mutation (genetic algorithm) 、 Sudden death 、 Hypertrophic cardiomyopathy
摘要: BACKGROUNDWe have previously described two distinct mutations in the beta-myosin heavy chain gene with markedly different clinical presentations and outcome: The 908Leu-->Val mutation was associated a low disease penetrance benign prognosis. In contrast, 403Arg-->Gln Caucasian kindred 100% high incidence of sudden cardiac death. Recently, another mutation, 606Val-->Met, has been reported to be "near normal survival" offered as evidence for nature neutral charge substitutions.METHODS AND RESULTSWe report (1) large (245 family members at risk inheriting gene) 256Gly-->Glu characterized by similar adults children (56% 60%, respectively) cumulative death rate only 2% 50 years age, (2) 606Val-->Met four deaths eight affected individuals, (3) Ko...
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