Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy
10.3760/cma.j.issn.0253-3758.2009.08.015
- VernacularTitle:肥厚型心肌病患者肌球蛋白结合蛋白C基因筛查及其相应的临床特征
- Author:
Zhan-Feng MA
1
;
Wen-Ling LIU
;
Da-Yi HU
;
Wen-Li XIE
;
Tian-Gang ZHU
;
Yi-Hong SUN
;
Song-Na YANG
;
Cui-Lan LI
;
Lei LI
;
Xiao-Yun ME
;
Jin-Gang YANG
;
Tian-Chang LI
;
Hong BIAN
;
Qi-Guang TONG
;
Jie XIAO
;
Guo-Hong WANG
;
Wei CUI
;
Rui-Yun FAN
;
Yun-Tian LI
Author Information
1. 北京大学人民医院
- Keywords:
Cardiomyopathy,hypertrophic;
Mutation;
Phenotype
- From:
Chinese Journal of Cardiology
2009;37(8):734-738
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy ( HCM ). Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18. 7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4. 5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.
