{"doi":"10.3389/fcvm.2021.798985","title":"Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy","abstract":"We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM , a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.","journal":"Frontiers in Cardiovascular Medicine","year":2022,"id":284503,"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":0.9403,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":962760,"name":"Hapet Shaybekyan","orcid":null,"position":1,"is_corresponding":false},{"id":308906,"name":"Yan Zhao","orcid":"0000-0002-7760-916X","position":2,"is_corresponding":false},{"id":330268,"name":"Xuedong Kang","orcid":null,"position":3,"is_corresponding":false},{"id":253658,"name":"Gregory A. Fishbein","orcid":"0000-0002-3632-5654","position":4,"is_corresponding":false},{"id":962761,"name":"Negar Khanlou","orcid":null,"position":5,"is_corresponding":false},{"id":962762,"name":"Juan C. Alejos","orcid":null,"position":6,"is_corresponding":false},{"id":501485,"name":"Nancy Halnon","orcid":"0000-0002-8370-7831","position":7,"is_corresponding":false},{"id":98940,"name":"Gary Satou","orcid":"0000-0001-6595-1286","position":8,"is_corresponding":false},{"id":767067,"name":"Reshma Biniwale","orcid":"0000-0002-2409-0907","position":9,"is_corresponding":false},{"id":302870,"name":"Hane Lee","orcid":"0000-0002-4736-0412","position":10,"is_corresponding":false},{"id":329008,"name":"Glen Van Arsdell","orcid":"0000-0001-9345-6020","position":11,"is_corresponding":false},{"id":6974,"name":"Stanley F. Nelson","orcid":"0000-0002-2082-3114","position":12,"is_corresponding":false},{"id":329009,"name":"Marlin Touma","orcid":"0000-0002-2827-4068","position":13,"is_corresponding":false},{"id":962759,"name":"Jamie O. Yang","orcid":null,"position":0,"is_corresponding":true}],"reference_count":9,"raw_metadata":null,"created_at":"2026-07-19T00:29:36.828109Z","pmid":"35071363","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":[]}