{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T20:14:24Z","timestamp":1787861664287,"version":"build-2784847793"},"reference-count":66,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,10,18]],"date-time":"2021-10-18T00:00:00Z","timestamp":1634515200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Audiology Research"],"abstract":"<jats:p>Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20\/26. ACTG1 gene encodes gamma actin, the predominant actin protein in the cytoskeleton of auditory hair cells; its normal expression and function are essential for the stereocilia maintenance. Different gain-of-function pathogenic variants of ACTG1 have been associated with two major phenotypes: DFNA20\/26 and Baraitser\u2013Winter syndrome, a multiple congenital anomaly disorder. Here, we report a novel ACTG1 variant [c.625G&gt;A (p. Val209Met)] in an adult patient with moderate-severe NSHL characterized by a downsloping audiogram. The patient, who had a clinical history of slowly progressive NSHL and tinnitus, was referred to our laboratory for the analysis of a large panel of NSHL-associated genes by next generation sequencing. An extensive review of previously reported ACTG1 variants and their associated phenotypes was also performed.<\/jats:p>","DOI":"10.3390\/audiolres11040052","type":"journal-article","created":{"date-parts":[[2021,10,18]],"date-time":"2021-10-18T16:43:55Z","timestamp":1634575435000},"page":"582-593","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["DFNA20\/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8139-6198","authenticated-orcid":false,"given":"Ugo","family":"Sorrentino","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Piccolo","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Rigon","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Brasson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5380-6265","authenticated-orcid":false,"given":"Eva","family":"Trevisson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Boaretto","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Martini","sequence":"additional","affiliation":[{"name":"Padova University Research Center \u201cI\u2013APPROVE, International Auditory Processing Project in Venice\u201d, \u201cSanti Giovanni e Paolo\u201d Hospital, 30122 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0270-1698","authenticated-orcid":false,"given":"Matteo","family":"Cassina","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.devcel.2006.07.001","article-title":"Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy","volume":"11","author":"Sonnemann","year":"2006","journal-title":"Dev. 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