We have examined for a mutation in the cardiac β myosin heavy chain gene from Japanese patients with familial hypertrophic cardiomyopathy. A missense mutation due to a G to A transition in codon 935, leading to a replacement of Glu with Lys, was found in one patient. Family members of this patient were then examined. It was revealed that both the proband and his elder brother, who was also a symptomatic patient, were homozygous for the mutation. The proband eventually died of intractable heart failure, and his brother died suddenly in their thirties. On the other hand, his parents, who were first cousins and heterozygous for the mutation, had cardiac hypertrophy without clinical symptoms. His elder sister was also heterozygous for the mutation, however, she did not manifest with cardiac hypertrophy. These observations suggest a gene-dose-like effect of the mutant cardiac β myosin heavy chain gene on the clinical manifestation of familial hypertrophic cardiomyopathy.
|Number of pages
|Biochemical and Biophysical Research Communications
|Published - Apr 15 1994
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Cell Biology