Novel missense mutation in cardiac β myosin heavy chain gene found in a japanese patient with hypertrophic cardiomyopathy

We have analyzed the exon 9, 13, 14, 15, and 16 of cardiac β 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 β myosin heavy chain gene in the Japanese population.