A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.
A 55-year-old man had been previously admitted at the age of 44 because of chest pain on effort. He was diagnosed as hypertrophic obstructive cardiomyopathy with a left ventricular outflow pressure gradient of 65 mmHg. We analyzed the cardiac beta-myosin heavy chain gene in this patient using polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP analysis). PCR-SSCP analysis revealed a sequence variation within exon 16. A G-to-A transversion with replacement of Val by Met at codon 606 was confirmed by sequencing analysis. Previously, a 606Val-->Met mutation has been reported to give a benign prognosis because of the neutral charge substitution. However, there have been some premature deaths in this patient's kindred. Thus, despite the absence of a change in charge, this mutation may be malignant in some kindreds.
Nakajima-Taniguchi
C
C
Department of Medicine III, Osaka University Medical School, Japan.
Azuma
J
J
Nagata
S
S
Kishimoto
T
T
Yamauchi-Takihara
K
K
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005091:Exons; D006801:Humans; D007564:Japan; D008297:Male; D008715:Methionine; D008875:Middle Aged; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014633:Valine
D008715:Methionine; D018995:Myosin Heavy Chains; D014633:Valine