{"doi":"10.21203/rs.2.21647/v1","title":"A novel homozygous premature stop mutation in TNNT2 associates with Feline cardiomyopathy","abstract":"Abstract Background: Hypertrophic cardiomyopathy (HCM) is a genetic disease of the heart and the most common cause of sudden cardiac death in the young. HCM is considered a disease of the sarcomere owing to the large number of mutations in genes encoding sarcomeric proteins. The riddle lies in discovering how these mutations lead to disease. As a result, treatments to prevent and/or treat HCM are limited to invasive surgical myectomies or ablations. Recently, a cohort of Maine Coon cats was identified as carrying an alanine to proline substitution at amino acid 31 of the sarcomeric protein, cardiac myosin binding protein-C, encoded by MYBPC3 . Additional mutations in MYBPC3 and MYH7 have also been associated with HCM in cats. In this study, we expand the spectrum of genes associated with HCM in cats. Results: Next Generation Whole Genome sequencing was performed using DNA isolated from peripheral blood of a Maine Coon with cardiomyopathy that tested negative for the above A31P mutation. Through risk stratification of variants, we identified a novel, homozygous truncating mutation in cardiac troponin-T ( TNNT2 ), also associated with HCM in humans. Both parents tested heterozygous for the mutation, but were unaffected by the disease. Conclusions: In summary, we are the first to demonstrate the association of TNNT2 mutations and HCM in a cat, suggesting this gene should be added to the testing panel of genes when performing genetic testing for HCM in cats.","journal":"Research Square (Research Square)","year":2020,"id":127771,"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":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9675,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":578019,"name":"Maggie Schuckman","orcid":null,"position":1,"is_corresponding":false},{"id":32896,"name":"Richard C. Becker","orcid":"0000-0002-9878-7707","position":2,"is_corresponding":false},{"id":274731,"name":"Sakthivel Sadayappan","orcid":"0000-0003-2006-7678","position":3,"is_corresponding":false},{"id":418668,"name":"James W. McNamara","orcid":"0000-0003-3754-6405","position":0,"is_corresponding":true}],"reference_count":29,"raw_metadata":null,"created_at":"2026-07-18T23:15:34.966380Z","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":[]}