[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].
To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM), peripheral blood samples were collected from 7 members of a Chinese HCM family, and 120 normal subjects were recruited as control. The full encoding exons and flanking sequences of the cardiac troponin T (TNNT2) gene, beta-myosin heavy chain (MYH7) gene and myosin binding protein C (MYBPC3) gene were amplified and the products were sequenced directly to detect the mutations. A missense mutation, c.1273G>A, was identified in exon 14 of the MYH7 gene in 4 members of the Chinese HCM family, which resulted a glycine (Gly) to arginine (Arg) exchange at amino acid residue 425. The 425th glycine amino acid residue is highly conservative across the different species. The clinical phenotypes among the family members who carried this mutation presented significant individual differences. The c.1273G>A mutation of the MYH7 gene might be the causal mutation of the familial HCM. The heterogeneity of phenotypes suggested that multiple factors may be involved in the pathogenesis of HCM.
Wang
Hu
H
Sino-German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China.
Zou
Yu-Bao
YB
Song
Lei
L
Wang
Ji-Zheng
JZ
Sun
Kai
K
Song
Xiao-Dong
XD
Gao
Shuo
S
Zhang
Chan-Na
CN
Hui
Ru-Tai
RT
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001120:Arginine / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002417:Cattle; D004285:Dogs; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D051381:Rats; D016415:Sequence Alignment; D013552:Swine
C501641:MYH7 protein, human; D001120:Arginine; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D005998:Glycine