{"doi":"10.26508/lsa.202402572","title":"Novel variants in<i>TECRL</i>leading to catecholaminergic polymorphic ventricular tachycardia","abstract":"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&gt;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.","journal":"Life Science Alliance","year":2024,"id":457665,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9509,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1283613,"name":"J. Härtung","orcid":null,"position":1,"is_corresponding":false},{"id":1283614,"name":"Elizabeth LaSalle","orcid":null,"position":2,"is_corresponding":false},{"id":1283203,"name":"Alejandro Borquez","orcid":"0000-0002-0985-8412","position":3,"is_corresponding":false},{"id":1283615,"name":"Viridiana Murillo","orcid":null,"position":4,"is_corresponding":false},{"id":845058,"name":"Lucia Guidugli","orcid":null,"position":5,"is_corresponding":false},{"id":249083,"name":"Kiely N. James","orcid":"0000-0001-8409-4363","position":6,"is_corresponding":false},{"id":32957,"name":"Stephen F. Kingsmore","orcid":"0000-0001-7180-2527","position":7,"is_corresponding":false},{"id":249077,"name":"Nicole G. Coufal","orcid":"0000-0001-6547-1733","position":8,"is_corresponding":false},{"id":502637,"name":"Douglas H. Jones","orcid":"0000-0002-7812-9125","position":0,"is_corresponding":true}],"reference_count":27,"raw_metadata":null,"created_at":"2026-07-19T02:03:41.744499Z","pmid":"38777371","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}