biostudies-literatureUnknown11(4)Sorrentino USince 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 audiograAudiology research582-593https://www.ebi.ac.uk/biostudies/studies/S-EPMC8544197biostudies-literatureDFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.PMC8544197Sorrentino UTrevisson EMartini ABoaretto FPiccolo CRigon CBrasson VCassina MfalseDFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.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 audiogra2021-01-01T00:00:00Z2021 Oct2026-04-08T07:15:56.26Z2025-04-04T20:18:40.455ZS-EPMC85441973469805310.3390/audiolres11040052