[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].
Zhonghua Xin Xue Guan Bing Za Zhi
; 37(8): 734-8, 2009 Aug.
Article
em Zh
| MEDLINE
| ID: mdl-20021930
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 exon17 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 exon18 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 mutations 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.
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Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Hipertrófica
/
Proteínas de Transporte
Idioma:
Zh
Ano de publicação:
2009
Tipo de documento:
Article