Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy

Biochem Biophys Res Commun. 1992 Oct 15;188(1):379-87. doi: 10.1016/0006-291x(92)92396-f.


We have analyzed the exon 9, 13, 14, 15, and 16 of cardiac beta myosin heavy chain gene in 96 Japanese patients with hypertrophic cardiomyopathy by using PCR-DNA conformation polymorphism analysis. The analysis revealed a sequence variation of the exon 16 in one patient. The sequence variation of a G to C transversion with replacement of Asn by Lys at the codon 615 was confirmed by sequencing and by dot-blot hybridization with an allele-specific oligonucleotide probe. Because the missense mutation was found at the residue conserved through birds to humans, this mutation was suggested to be a cause of hypertrophic cardiomyopathy in the patient. This is the first report of a mutant cardiac beta myosin heavy chain gene in the Japanese population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cardiomyopathy, Hypertrophic / genetics*
  • Codon
  • DNA / genetics
  • DNA / isolation & purification
  • Exons
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Myocardium / metabolism*
  • Myosins / genetics*
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction
  • Sequence Homology, Amino Acid


  • Codon
  • Oligodeoxyribonucleotides
  • DNA
  • Myosins