The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss

The c.981C>G (p.Ile327Met) variant contributes to HL pathogenesis through dual mechanisms involving impaired gene expression and filament destabilisation. This study highlights the clinical relevance of variant location relative to ABP binding regions and provides new insights into genotype-phenotype relationships in ACTG1-associated HL.