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In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single\u2010gene mutations can lead to syndromic or non\u2010syndromic hearing loss. Monoallelic variants in <jats:italic>ACTG1<\/jats:italic>, coding for gamma (\u03b3)\u2010actin, are associated with classical Baraitser\u2010Winter 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 <jats:italic>ACTG1<\/jats:italic> variants are reported, having severe hearing loss as a common phenotype but with different clinical presentations, supporting the extreme variability of <jats:italic>ACTG1<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/ggn2.202400040","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T09:25:03Z","timestamp":1733390703000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Extreme Phenotypic Variability of <i>ACTG1<\/i>\u2010Related Disorders in Hearing Loss"],"prefix":"10.1002","volume":"5","author":[{"given":"Maria T.","family":"Bernardi","sequence":"first","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET  Buenos Aires 1428 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Memoona","family":"Ramzan","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami FL 33136 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Calderon","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Dr. R. Gutierrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET  Buenos Aires 1428 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Agustina","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET  Buenos Aires 1428 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Bivona","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine  Miami FL 33136 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Armando","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Gen\u00e9tica M\u00e9dica Hospital de Ni\u00f1os Dr. R. Gutierrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Vazquez","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Gen\u00e9tica M\u00e9dica Hospital de Ni\u00f1os Dr. R. Gutierrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Esnaola","family":"Azcoiti","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE) CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo A.","family":"Marti","sequence":"additional","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET  Buenos Aires 1428 Argentina"},{"name":"Departamento de Qu\u00edmica Biol\u00f3gica Facultad de Ciencias Exactas y Naturales Universidad de Buenos Aires (FCEyN\u2010UBA)  Buenos Aires 1428 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Arberas","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Gen\u00e9tica M\u00e9dica Hospital de Ni\u00f1os Dr. R. Gutierrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriela","family":"Ropelato","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE) CONICET \u2013 FEI \u2013 Divisi\u00f3n de Endocrinolog\u00eda Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvina","family":"Olha","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Dr. R. Gutierrez  Buenos Aires 1330 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byron L.","family":"Lam","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute University of Miami Miller School of Medicine  Miami FL 33136 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred F.","family":"Telischi","sequence":"additional","affiliation":[{"name":"Departments of Otolaryngology Neurological Surgery and Biomedical Engineering Miller School of Medicine University of Miami  Miami FL 33136 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami FL 33136 USA"},{"name":"Dr. John T. 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