{"doi":"10.1002/ggn2.202400040","title":"Extreme Phenotypic Variability of <i>ACTG1</i>‐Related Disorders in Hearing Loss","abstract":"Abstract Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single‐gene mutations can lead to syndromic or non‐syndromic hearing loss. Monoallelic variants in ACTG1 , coding for gamma (γ)‐actin, are associated with classical Baraitser‐Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness. Here two unrelated patients with ACTG1 variants are reported, having severe hearing loss as a common phenotype but with different clinical presentations, supporting the extreme variability of ACTG1 ‐related disorders.","journal":"Advanced Genetics","year":2024,"id":452449,"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":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9561,"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":416552,"name":"Memoona Ramzan","orcid":"0000-0002-3750-112X","position":1,"is_corresponding":false},{"id":1274654,"name":"L.A. Calderón","orcid":null,"position":2,"is_corresponding":false},{"id":1274655,"name":"Franco Salvatore","orcid":null,"position":3,"is_corresponding":false},{"id":1274656,"name":"Maria Agustina De Rosa","orcid":null,"position":4,"is_corresponding":false},{"id":308555,"name":"Stephanie Bivona","orcid":"0009-0001-9824-0306","position":5,"is_corresponding":false},{"id":1274210,"name":"Romina Armando","orcid":"0000-0003-2903-9243","position":6,"is_corresponding":false},{"id":1117131,"name":"Natalia Vázquez","orcid":"0000-0002-3410-2190","position":7,"is_corresponding":false},{"id":1226064,"name":"María Esnaola Azcoiti","orcid":"0000-0002-1499-1015","position":8,"is_corresponding":false},{"id":285922,"name":"Marcelo A. Martí","orcid":"0000-0002-7911-9340","position":9,"is_corresponding":false},{"id":455842,"name":"Claudia Arberas","orcid":null,"position":10,"is_corresponding":false},{"id":1274211,"name":"María Gabriela Ropelato","orcid":"0000-0003-0040-1210","position":11,"is_corresponding":false},{"id":1274657,"name":"Silvina Olha","orcid":null,"position":12,"is_corresponding":false},{"id":396779,"name":"Byron L. Lam","orcid":"0000-0002-1233-2366","position":13,"is_corresponding":false},{"id":513721,"name":"Fred F. Telischi","orcid":"0000-0002-2596-6341","position":14,"is_corresponding":false},{"id":383362,"name":"Mustafa Tekin","orcid":"0000-0002-3525-7960","position":15,"is_corresponding":false},{"id":438100,"name":"Katherina Walz","orcid":"0000-0002-1296-5286","position":16,"is_corresponding":false},{"id":1274653,"name":"Maria T. Bernardi","orcid":null,"position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T02:02:50.407779Z","pmid":"39734360","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":[]}