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[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 GA mutation in cardiac myosin-binding protein C gene]

Authors :
Shu-xia, Wang
Yu-bao, Zou
Chun-yan, Fu
Hu, Wang
Ji-zheng, Wang
Xiao-dong, Song
Jing-zhou, Chen
Ru-tai, Hui
Source :
Zhonghua xin xue guan bing za zhi. 35(1)
Publication Year :
2007

Abstract

To study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation.One 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.We identified a 13261 GA 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.The 13261 GA mutation is associated with a DCM-like HCM and HCM phenotype in this Chinese family affected with HCM.

Details

ISSN :
02533758
Volume :
35
Issue :
1
Database :
OpenAIRE
Journal :
Zhonghua xin xue guan bing za zhi
Accession number :
edsair.pmid..........c385c761b6b7e594088e0257370669cf