A NOVEL DELETION MUTATION IN THE BETA-MYOSIN HEAVY-CHAIN GENE FOUND IN JAPANESE PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

Mutations in the cardiac beta-myosin heavy chain (MC) gene of 50 Japan ese patients with hypertrophic cardiomyopathy (HCM) were investigated by polymerase chain reaction (PCR)-single strand conformation polymorp hism (SSCP) analysis. A novel deletion mutation was detected in exon 3 of the cardiac beta-MHC gene in a Japanese family with HCM. Sequencin g analysis revealed a three nucleotide deletion at codon 10 leading to a deletion of a glycine residue, which has been conserved in the myos in gene from birds to humans, Because this deletion mutation was not d etected in other healthy family members, it was suggested that this (1 0)Gly deletion is the cause of HCM in this family. The same deletion m utation has been found in three other unrelated patients with HCM, Thi s is the first report of a one codon deletion in the beta-MHC gene in patients with HCM. (C) 1995 Academic Press Limited