{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:55:00Z","timestamp":1791575700445,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T00:00:00Z","timestamp":1567468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic variants of the <jats:italic>CASQ2<\/jats:italic> 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 <jats:italic>CASQ2<\/jats:italic> 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 <jats:italic>CASQ2<\/jats:italic> variants in Chinese patients with CPVT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used targeted next\u2010generation sequencing (NGS) to identify <jats:italic>CASQ2<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified seven different <jats:italic>CASQ2<\/jats:italic> variants, of which three (c.1074_1075delinsC, c.1175_1178delACAG, and c.838+1G&gt;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&gt;T (p.R33*) and a missense variant c.748C&gt;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&gt;A (p.R33Q) of <jats:italic>CASQ2<\/jats:italic> in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G&gt;A) and (c.838+1G&gt;A), in Family 4 with one CPVT patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, this is the first systematic study of Chinese children with <jats:italic>CASQ2<\/jats:italic> variants. Our work further expands the genetic spectrum of <jats:italic>CASQ2<\/jats:italic>\u2010associated CPVT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.949","type":"journal-article","created":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T01:45:40Z","timestamp":1567561540000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>CASQ2<\/i> variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1783-8240","authenticated-orcid":false,"given":"Qirui","family":"Li","sequence":"first","affiliation":[{"name":"Department of Cardiology Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health Beijing 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