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CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia

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机构： [1]Department of Cardiology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China [3]Genetics and Birth Defects Control Center, National Center for Children's Health, Beijing, China [4]MOE Key Laboratory of Major Diseases in Children, Beijing, China [5]Beijing Children's Hospital, Capital Medical University, Beijing, China [6]Internal Medicine Teaching and Research Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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关键词： autosomal recessive CASQ2 variants catecholaminergic polymorphic ventricular tachycardia targeted next-generation sequencing

摘要：

Background: Biallelic variants of the CASQ2 are known to cause the autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease that predisposes young individuals to syncope and sudden cardiac death. To date, only about 24 CASQ2 variants have been reported in association with CPVT pathogenesis; furthermore, studies in Asians, especially in the Chinese population, are relatively rare. The aim of this study was to detect CASQ2 variants in Chinese patients with CPVT. Methods: We used targeted next-generation sequencing (NGS) to identify CASQ2 variants in Chinese patients with CPVT. A screening process was performed to prioritize rare variants of potential functional significance. Sanger sequencing was conducted to conform the candidate variants and determine the parental origin. Results: We identified seven different CASQ2 variants, of which three (c.1074_1075delinsC, c.1175_1178delACAG, and c.838+1G>A) have not been previously reported. The variants exhibited autosomal recessive inheritance, and were detected in four unrelated Chinese families with CPVT. They included a nonsense variant c.97C>T (p.R33*) and a missense variant c.748C>T (p.R250C) in Family 1 with three CPVT patients; two heterozygous frameshift variants, c.1074_1075delinsC (p.G359Afs*12) and c.1175_1178delACAG (p.D392Vfs*84), in Family 2 with one CPVT patient; one pathogenic homozygous variant c.98G>A (p.R33Q) of CASQ2 in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G>A) and (c.838+1G>A), in Family 4 with one CPVT patient. Conclusion: To our knowledge, this is the first systematic study of Chinese children with CASQ2 variants. Our work further expands the genetic spectrum of CASQ2-associated CPVT. © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

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出版当年[2018]版：

大类 | 3 区医学

小类 | 3 区遗传学

最新[2025]版：

大类 | 4 区医学

小类 | 4 区遗传学

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出版当年[2017]版：

Q2 GENETICS & HEREDITY

最新[2023]版：

Q4 GENETICS & HEREDITY

影响因子： 1.5 最新[2023版] 2 最新五年平均 2.695 出版当年[2017版] 0 出版当年五年平均 0 出版前一年[2016版] 2.448 出版后一年[2018版]

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第一作者机构： [1]Department of Cardiology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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通讯作者：

通讯机构： [1]Department of Cardiology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China [6]Internal Medicine Teaching and Research Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China [*1]Department of Cardiology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, 56 South lishi Road, Beijing 100045, China. [*2]Internal Medicine Teaching and Research Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, 56 South lishi Road, Beijing 100045, China

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CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia

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