{"doi":"10.1089/gtmb.2020.0153","title":"Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel","abstract":"Background: Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50-60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance. Methods: In our study, we used our targeted custom MiamiOtoGenes panel of 180 HL-associated genes to screen 23 unrelated consanguineous Iranian families with at least two affected children to identify potential causal variants for HL. Results: We identified pathogenic variants in seven genes ( MYO7A, CDH23, GIPC3, USH1C , CAPB2, LOXHD1, and STRC ) in nine unrelated families with varying HL profiles. These include five reported and four novel mutations. Conclusion: For small consanguineous families that were unsuitable for conventional linkage analysis the employment of the MiamiOtoGenes panel helped identify the genetic cause of HL in a cost-effective and timely manner. This rapid methodology provides for diagnoses of a significant fraction of HL patients, and identifies those who will need more extensive genetic analyses such as whole exome/genome sequencing.","journal":"Genetic Testing and Molecular Biomarkers","year":2020,"id":106696,"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":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7669,"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":513720,"name":"Denise Yan","orcid":"0000-0002-9074-4817","position":1,"is_corresponding":false},{"id":514509,"name":"Kolsoum Saeidi","orcid":"0000-0003-0519-0432","position":2,"is_corresponding":false},{"id":515420,"name":"Afsaneh Sahebalzamani","orcid":null,"position":3,"is_corresponding":false},{"id":514510,"name":"Susan H. Blanton","orcid":"0000-0002-5433-3439","position":4,"is_corresponding":false},{"id":513722,"name":"Xue Zhong Liu","orcid":"0000-0002-4758-6470","position":5,"is_corresponding":false},{"id":515419,"name":"Abhiraami Kannan-Sundhari","orcid":null,"position":0,"is_corresponding":true}],"reference_count":28,"raw_metadata":null,"created_at":"2026-07-18T23:12:31.053776Z","pmid":"32991204","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":[]}