Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree
10.3760/cma.j.issn.0253-3758.2014.07.010
- VernacularTitle:β肌球蛋白重链基因 Pro731 Ser 突变与家族性肥厚型心肌病的相关性研究
- Author:
Xintao ZHAO
1
;
Yajie WU
;
Yi CHEN
;
Xinxing FENG
;
Ying SONG
;
Yilu WANG
;
Yubao ZOU
;
Jizheng WANG
;
Yibing SHAO
;
Rutai HUI
;
Lei SONG
;
Xu WANG
Author Information
1. 266071,青岛大学医学院附属青岛市市立医院东院心内科
- Keywords:
Cardiomyopathy,hypertrophic;
Myosin heavy chains;
Genotype;
Phenotype
- From:
Chinese Journal of Cardiology
2014;(7):571-576
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM),and to analyze the genotype-phenotype relationship.Methods The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls.The genotype-phenotype correlation was analyzed in the family.Results A missense mutation (c.2191C>T, p.Pro731Ser) in the 20th exon of MYH7 gene was identified.This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM.Totally 13 family members carried this mutation , including 10 patients with HCM and 3 asymptomatic mutation carriers.The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure , including dyspnea , palpitations , chest pain , amaurosis or syncope.Five patients were diagnosed as HCM at the age of 16 or younger.One family member suffered sudden cardiac death.Conclusions The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.
