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在一名儿茶酚胺能多形性室性心动过速患者中鉴定出和基因中的两个变异,提示新的候选疾病基因和双基因遗传。

Identification of two variants in and genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.

作者信息

Jaouadi Hager, Chabrak Sonia, Lahbib Saida, Abdelhak Sonia, Zaffran Stéphane

机构信息

Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Institut Pasteur de Tunis Tunis Tunisia.

Aix Marseille Université INSERM, Marseille Medical Genetics Marseille France.

出版信息

Clin Case Rep. 2022 Feb 20;10(2):e05339. doi: 10.1002/ccr3.5339. eCollection 2022 Feb.

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt structural heart abnormalities. Mutations in  gene account for the large part of CPVT cases. Less frequently, mutations in  gene have been linked to the recessive form of the disease. Overall, approximately 35% of CPVT patients remain without a genetic etiology implying that other genes might be found causative of the disease. Here, we present a 6-year-old boy born to first-degree related parents, with a typical phenotype of CPVT and a family history of sudden cardiac death of his brother at 7 years. A trio-based whole exome sequencing was performed, and we identified a homozygous variant in gene and a heterozygous variant in gene. We hypothesized that the presence of the homozygous variant in accounts for the CPVT phenotype in this family and the heterozygous variant in gene may act as a modifier gene. Further studies are needed to determine the role of these genes in CPVT.

摘要

儿茶酚胺能多形性室性心动过速(CPVT)是一种致心律失常综合征,其特征为危及生命的心律失常、静息心电图正常且无明显的结构性心脏异常。基因中的突变占CPVT病例的大部分。较少见的是,基因中的突变与该疾病的隐性形式有关。总体而言,约35%的CPVT患者仍无遗传病因,这意味着可能会发现其他致病基因。在此,我们报告一名6岁男孩,其父母为一级亲属,具有典型的CPVT表型,其哥哥7岁时因心源性猝死去世。我们进行了基于三联体的全外显子组测序,在基因中鉴定出一个纯合变异,在基因中鉴定出一个杂合变异。我们推测基因中纯合变异的存在导致了该家族的CPVT表型,而基因中的杂合变异可能起修饰基因的作用。需要进一步研究来确定这些基因在CPVT中的作用。

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