首页|期刊导航|中华医学杂志（英文版）|Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy
Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy
YANG Jun-hua ZHAO Cai-ming JIANG Wen-ping ZHENG Dong-dong DONG Ning-zheng YANG Xiang-jun SONG Jian-ping JIANG Ting-bo CHENG Xu-jie LI Hong-xia ZHOU Bing-yuan
中华医学杂志（英文版）2006，Vol.119Issue(21)：1785-1789,5.
中华医学杂志（英文版）2006，Vol.119Issue(21)：1785-1789,5.
Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy
Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy
摘要
Abstract
Background Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain (β-MHC) are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype.Methods The exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed.Results The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13 619 of the MYH7 gene, located at the essential light chain interacting region in S1,the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated.Conclusion The Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.关键词
cardiomyopathy, hypertrophic, familial/myosin heavy chain/mutation/genotype/phenotypeKey words
cardiomyopathy, hypertrophic, familial/myosin heavy chain/mutation/genotype/phenotype分类
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YANG Jun-hua,ZHAO Cai-ming,JIANG Wen-ping,ZHENG Dong-dong,DONG Ning-zheng,YANG Xiang-jun,SONG Jian-ping,JIANG Ting-bo,CHENG Xu-jie,LI Hong-xia,ZHOU Bing-yuan..Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy[J].中华医学杂志（英文版）,2006,119(21):1785-1789,5.基金项目
This work was supported by Jiangsu Institute of Hematology of Science and Technology. （）
