{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T06:50:03Z","timestamp":1781247003690,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,22]],"date-time":"2020-03-22T00:00:00Z","timestamp":1584835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. The most common form of CPVT is due to autosomal dominant variants in the cardiac ryanodine\u2010receptor gene (RYR2). However, trans\u20102,3\u2010enoyl\u2010CoA reductase\u2010like (TECRL) was recently suggested to be a novel candidate gene for life\u2010threatening inherited arrhythmias. Patients previously reported with pathogenic changes in TECRL showed a special mixed phenotype of CPVT and long\u2010QT\u2010syndrome (LQTS) termed CPVT type 3 (CPVT3), an autosomal recessive disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>We implemented <jats:italic>TECRL<\/jats:italic> into our NGS panel diagnostics for CPVT and LQTS in April 2017. By December 2018, 631 index patients with suspected CPVT or LQTS had been referred to our laboratory for genetic testing. Molecular analysis identified four Caucasian families carrying novel variants in <jats:italic>TECRL<\/jats:italic>. One patient was homozygous for Gln139* resulting in a premature stop codon and loss\u2010of\u2010function of the <jats:italic>TECRL<\/jats:italic> protein. Another patient was homozygous for Pro290His, probably leading to an altered folding of the 3\u2010oxo\u20105\u2010alpha steroid 4\u2010dehydrogenase domain of the <jats:italic>TECRL<\/jats:italic> protein. The LOF\u2010variant Ser309* and the missense\u2010variant Val298Ala have been shown to be compound heterozygous in another individual. NGS\u2010based copy number variation analysis and quantitative PCR revealed a quadruplication of <jats:italic>TECRL<\/jats:italic> in the last individual, which is likely to be a homozygous duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The data from our patient collective indicate that CPVT3 occurs much more frequently than previously expected. Variants in <jats:italic>TECRL<\/jats:italic> may be causative in up to 5% of all CPVT cases. According to these findings, the default analysis of this gene is recommended if CPVT is suspected.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jce.14446","type":"journal-article","created":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T05:23:59Z","timestamp":1584336239000},"page":"1527-1535","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Novel variants in <i>TECRL<\/i> cause recessive inherited CPVT type 3 with severe and variable clinical symptoms"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5727-8554","authenticated-orcid":false,"given":"Alexander","family":"Moscu\u2010Gregor","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics MVZ Martinsried GmbH  Martinsried Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Marschall","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics MVZ Martinsried GmbH  Martinsried Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"M\u00fcntjes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Clinic for Pediatrics III Essen University Hospital  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Sch\u00f6necker","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Clinic for Pediatrics III Essen University Hospital  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Schuessler\u2010Hahn","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Medical Department Charit\u00e9 Campus Virchow\u2010Klinikum  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Hohendanner","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Medical Department Charit\u00e9 Campus Virchow\u2010Klinikum  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul Shokor","family":"Parwani","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Medical Department Charit\u00e9 Campus Virchow\u2010Klinikum  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif\u2010Hendrik","family":"Boldt","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Medical Department Charit\u00e9 Campus Virchow\u2010Klinikum  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus\u2010Eric","family":"Ott","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics  Charit\u00e9 Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Bennewiz","sequence":"additional","affiliation":[{"name":"Praxis\u2010Kinderherz, Gesundheitszentrum Am Borsigturm  Berlin 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