Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene.
- Author:
Shu-xia WANG
1
;
Yu-bao ZOU
;
Chun-yan FU
;
Hu WANG
;
Ji-zheng WANG
;
Xiao-dong SONG
;
Jing-zhou CHEN
;
Ru-tai HUI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Cardiomyopathy, Hypertrophic; genetics; Carrier Proteins; genetics; China; Female; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Phenotype
- From: Chinese Journal of Cardiology 2007;35(1):17-20
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation.
METHODSOne family (n = 27) affected with HCM were chosen for the study. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. The clinical data including symptom, physical, echocardiography and electrocardiography examinations were collected.
RESULTSWe identified a 13261 G > A mutation, which causes a missense mutation (G758D) in exon 23 of MYBPC3 in 9 family members. One mutation carrier suffered from dilated cardiomyopathy (DCM) with asymmetric interventricular septal hypertrophy (14 mm). Another mutation carrier was diagnosed as HCM.
CONCLUSIONSThe 13261 G > A mutation is associated with a DCM-like HCM and HCM phenotype in this Chinese family affected with HCM.
