A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy

VernacularTitle:心脏肌球蛋白结合蛋白C基因S236G新突变致肥厚型心肌病表型研究
Author: Hu WANG ¹ ; Lei SONG ; Yu-Bao ZOU ; Ji-Zheng WANG ; Kai SUN ; Shuo GAO ; Chan-Na ZHANG ; Ru-Tai HUI
Author Information

1. 中国医学科学院北京协和医学院阜外心血管病医院
Keywords: Cardiomyopathy; hypertrophic; Mutation; Phenotype
From: Chinese Journal of Cardiology 2009;37(12):1078-1080
CountryChina
Language:Chinese
Abstract: Objective To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy ( HCM). Methods One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene ( MYBPC3 ) were amplified with PCR and the products were sequenced. Results A novel missense mutation c. 706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM ). The 120 controls were normal in the genetic test Conclusions The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.