Chung Wendy K, Kitner Carrie, Maron Barry J
Departments of Pediatrics and Medicine, Columbia University Medical Center, 1150 St Nicholas Avenue, New York 10032, USA.
Cardiol Young. 2011 Jun;21(3):345-8. doi: 10.1017/S1047951110001927. Epub 2011 Jan 25.
PurposeHypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.
A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.
A c.363dupG mutation in Troponin C was identified, and tested across the family.
We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.
目的
肥厚型心肌病是年轻人（包括受过训练的运动员）猝死的最常见原因，由编码心肌肌节蛋白的基因突变引起。肌钙蛋白C基因（TNNC1）突变是肥厚型心肌病的一种罕见遗传病因。我们描述了一种新型的肌钙蛋白C突变（c.363dupG），这是一种罕见的肥厚型心肌病形式。
对一个家族进行基因研究，该家族中一名19岁无症状男性因肥厚型心肌病死于心源性猝死，通过对17个与肥厚型心肌病或其表型相似疾病相关的基因进行测序。
在肌钙蛋白C中鉴定出c.363dupG突变，并在整个家族中进行检测。
我们报告了首例肌钙蛋白C中的移码突变（c.363dupG或p.Gln122AlafsX30），该突变导致一名19岁男性患肥厚型心肌病（并发生心源性猝死），并证明该突变在家族中与肥厚型心肌病共分离。
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