{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(4)"],"submitter":["Sorrentino U"],"pubmed_abstract":["Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the <i>ACTG1</i> gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. <i>ACTG1</i> 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 <i>ACTG1</i> have been associated with two major phenotypes: DFNA20/26 and Baraitser-Winter syndrome, a multiple congenital anomaly disorder. Here, we report a novel <i>ACTG1</i> variant [c.625G>A (p. Val209Met)] in an adult patient with moderate-severe NSHL characterized by a downsloping audiogra"],"journal":["Audiology research"],"pagination":["582-593"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8544197"],"repository":["biostudies-literature"],"pubmed_title":["DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature."],"pmcid":["PMC8544197"],"pubmed_authors":["Sorrentino U","Trevisson E","Martini A","Boaretto F","Piccolo C","Rigon C","Brasson V","Cassina M"],"additional_accession":[]},"is_claimable":false,"name":"DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.","description":"Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the <i>ACTG1</i> gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. <i>ACTG1</i> 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 <i>ACTG1</i> have been associated with two major phenotypes: DFNA20/26 and Baraitser-Winter syndrome, a multiple congenital anomaly disorder. Here, we report a novel <i>ACTG1</i> variant [c.625G>A (p. Val209Met)] in an adult patient with moderate-severe NSHL characterized by a downsloping audiogra","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Oct","modification":"2026-04-08T07:15:56.26Z","creation":"2025-04-04T20:18:40.455Z"},"accession":"S-EPMC8544197","cross_references":{"pubmed":["34698053"],"doi":["10.3390/audiolres11040052"]}}