Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Autor:	Jones D; Rady Children's Hospital, San Diego, CA, USA.; Division of Pediatric Critical Care, Department of Pediatrics, University of California, San Diego, CA, USA., Hartung J; Rady Children's Hospital, San Diego, CA, USA.; Division of Pediatric Critical Care, Department of Pediatrics, University of California, San Diego, CA, USA., Lasalle E; Rady Children's Hospital, San Diego, CA, USA.; Division of Cardiology, Department of Pediatrics, University of California, San Diego, CA, USA., Borquez A; Rady Children's Hospital, San Diego, CA, USA.; Division of Cardiology, Department of Pediatrics, University of California, San Diego, CA, USA., Murillo V; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., James KN; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Coufal NG; Rady Children's Hospital, San Diego, CA, USA ncoufal@health.ucsd.edu.; Division of Pediatric Critical Care, Department of Pediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Jazyk:	angličtina
Zdroj:	Life science alliance [Life Sci Alliance] 2024 May 22; Vol. 7 (8). Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).
DOI:	10.26508/lsa.202402572
Abstrakt:	Pathogenic and likely pathogenic variants in the TECRL gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication. (© 2024 Jones et al.)
Databáze:	MEDLINE
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