国人肥厚型心肌病患者肌球蛋白结合蛋白C基因Gly507 Arg和Pro1208fs突变

国人肥厚型心肌病患者肌球蛋白结合蛋白C基因Gly507

Arg和Pro1208fs突变的不同临床表型

李敏;陈灏珠;程宽;王齐兵;朱文青;秦胜梅;崔洁;舒先红;陈瑞珍;葛均波

【期刊名称】《中华心血管病杂志》 【年(卷),期】2009(037)009

【摘要】Objective To detect gene mutations associated with hypertrophic cardiomyopathy (HCM) in Chinese patients and possible correlations between genotype and phenotype. Methods Twenty-one unrelated patients with hypertrophic cardiomyopathy were studied. The clinical

data

including

symptoms,

physical

examination,

echocardiography and electrocardiography were collected. The full ecoding exons of cardiac myosin-binding protein C gene (cMYBPC3) were amplified with PCR and the products were sequenced. Results Two mutations were identified in probands from two families. One mutation was frame shift mutation Pro1208fs in the exon 32 of the cMYBPC3 gene. Pro1208fs mutation was identified in a 59 years old female patient with familial hypertrophic cardiomyopathy. Symptom onset was late and a favorable clinical course was evidenced in this patient. Another mutation was missence mutation Gly507Arg in the exon 17 of the MYBPC3 gene identified in a 24 years old male patient. Diffuse thickness of left ventricular wall, impaired diastolic function and enlarged left atria were evidenced in echocardiography. No mutation