{"doi":"10.1017/s1047951110001927","title":"Novel frameshift mutation in Troponin C (<i>TNNC1</i>) associated with hypertrophic cardiomyopathy and sudden death","abstract":"<jats:title>Abstract</jats:title><jats:sec id=\"S1047951110001927_abs1\" sec-type=\"general\"><jats:title>Purpose</jats:title><jats:p>Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (<jats:italic>TNNC1</jats:italic>) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in <jats:italic>Troponin C</jats:italic>, a rare form of hypertrophic cardiomyopathy.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs2\" sec-type=\"methods\"><jats:title>Methods</jats:title><jats:p>A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs3\" sec-type=\"results\"><jats:title>Results</jats:title><jats:p>A c.363dupG mutation in <jats:italic>Troponin C</jats:italic> was identified, and tested across the family.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs4\" sec-type=\"conclusion\"><jats:title>Conclusions</jats:title><jats:p>We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in <jats:italic>Troponin C</jats:italic> causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.</jats:p></jats:sec>","journal":"Cardiology in the Young","year":2011,"id":627922,"datarank":0.49983067652628066,"base_score":3.332204510175204,"endowment":3.332204510175204,"self_citation_contribution":0.49983067652628066,"citation_network_contribution":0.0,"self_endowment_contribution":0.49983067652628066,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":27,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1625480,"name":"Carrie Kitner","orcid":null,"position":1,"is_corresponding":false},{"id":402510,"name":"Barry J. Maron","orcid":"0000-0002-1710-8670","position":2,"is_corresponding":false},{"id":23578,"name":"Wendy K. Chung","orcid":"0000-0003-3438-5685","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel frameshift mutation in Troponin C (<i>TNNC1</i>) associated with hypertrophic cardiomyopathy and sudden death","abstract":"<jats:title>Abstract</jats:title><jats:sec id=\"S1047951110001927_abs1\" sec-type=\"general\"><jats:title>Purpose</jats:title><jats:p>Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (<jats:italic>TNNC1</jats:italic>) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in <jats:italic>Troponin C</jats:italic>, a rare form of hypertrophic cardiomyopathy.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs2\" sec-type=\"methods\"><jats:title>Methods</jats:title><jats:p>A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs3\" sec-type=\"results\"><jats:title>Results</jats:title><jats:p>A c.363dupG mutation in <jats:italic>Troponin C</jats:italic> was identified, and tested across the family.</jats:p></jats:sec><jats:sec id=\"S1047951110001927_abs4\" sec-type=\"conclusion\"><jats:title>Conclusions</jats:title><jats:p>We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in <jats:italic>Troponin C</jats:italic> causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21262074","pmcid":null,"openalex_id":null,"authors":[],"funders":[],"total_grants":0,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":"https://www.cambridge.org/core/terms","oa_locations":[{"url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S1047951110001927","host_type":"publisher"}],"fields_of_study":[],"mesh_terms":["Humans","Cardiomyopathy, Hypertrophic","Death, Sudden, Cardiac","Genetic Predisposition to Disease","Troponin C","Pedigree","Mutation","Frameshift Mutation","Adolescent","Middle Aged","Female","Male","Young Adult","Genetic Testing"],"keywords":[],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T09:58:18.429224Z","pmid":null,"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":[]}