The genotype-phenotype correlation of MYH7 gene G15391 A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy
10.3321/j.issn:0253-3758.2008.12.002
- VernacularTitle:MYBPC3基因G12101A和MYH7基因G15391A突变与肥厚型心肌病临床表型
- Author:
Hu WANG
1
;
Yu-Bao ZOU
;
Ji-Zheng WANG
;
Lei SONG
;
Kai SUN
;
Xiao-Dong SONG
;
Xiao-Jian WANG
;
Chan-Na ZHANG
;
Ru-Tai HUI
Author Information
1. 中国医学科学院北京协和医学院心血管病研究所阜外心血管病医院
- Keywords:
Cardiomyopathy,hypertrophic;
Mutation;
Phenotype
- From:
Chinese Journal of Cardiology
2008;36(12):1059-1062
- CountryChina
- Language:Chinese
-
Abstract:
Objective To reveal genotype-phenotype correlation of disease-causing gene mutations in Chinese hypertrophic cardiomyopathy(HCM)pedigree.Methods Peripheral venous blood samples were collected from two Chinese HCM families and 120 healthy subjects were recruited as normal control.The full encoding exorts and flanking sequences of the cardiac troponin T gene(TNNT2),beta-myosin heavy chain gene(MYH7)and myosin binding protein C gene(MYBPC3)were amplified with the polymerase chain reaction method,DNA sequencing was used to detect the mutation.Results In ZZJ family,mutation G12101 A was identified in exon 21 of MYBPC3 gene in 4 family members [the arginine(R)converted to histidine(H)].in this pedigree,three out of eight family members were diagnosed as HCM and with a penetrance of 75%.In FHL family,mutation G15391A was identified in exon 23 of MYH7 gene in 3 family membeF8[the glutamic acid(E)convened to iysine(K)].In this pedigree,three out of six family members were diagnosed as HCM and with a penetrance of 100%.Echocardiography showed obstruction of left ventficular ontflow tract in two out of the three HCM patients.Conclusions Our results showed that the G12101 A mutation of MYBPC3 gene is the causal mutation of familial HCM with mild phenotype.The G15391 A mutation of MYH7 gene is the causal mutation of familial HCM with malignant phenotype and a penetrance of 100%.Screening mutations in the MYH7 gene should be viewed as a reasonable procedure in obstructive HCM patients.
