IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE CARDIAC BETA-MYOSIN HEAVY-CHAIN GENE IN A CHINESE PATIENT WITH SPORADIC HYPERTROPHIC CARDIOMYOPATHY

The exons 13, 16, 21 and 23 of cardiac beta-myosin heavy chain (MHC) g ene from 32 Chinese patients with hypertrophic cardiomyopathy were ana lyzed by the polymerase chain reaction and the DNA single strand confo rmation polymorphism (PCR-SSCP) procedure, The results showed an alter ed SSCP in exon 13 of one patient. Sequencing analysis revealed that t he patient had a G to T transversion in codon 353, resulting in the su bstitution of Lys by Asn. The missense mutation was also confirmed by Southern blot hybridization with an allele-specific oligonucleotide pr obe. Because it was found at a residue highly conserved through evolut ion, this mutation is likely to be the cause of hypertrophic cardiomyo pathy in the patient. Because her parents and child were neither clini cally nor genetically affected, it was concluded that the mutation in this patient arose de novo and was not passed to her child. This is th e first report of a mutant cardiac beta-MHC gene in the Chinese popula tion. Also, it is a novel missense mutation of the cardiac beta-MHC ge ne. (C) 1996 Academic Press Limited