POSTLINGWALNY NIEDOSŁUCH ODBIORCZY SPOWODOWANY ZNANĄ MODYFIKACJĄ GENU TBC1D24

Abstract

BackgroundGenetically determined hearing loss (HL) can be inherited in two major ways - autosomal recessive or dominant. Autosomal dominant hearing loss (ADHL) is usually postlingual and progressive. To date, 50 different genes have been demonstrated to be causally involved in its development. In Polish ADHL patients, TBC1D24 pathogenic variants are a frequent cause of the disease.Case reportA three-generation Polish family with ADHL was recruited for the study. An audiological assessment was conducted and next- generation sequencing of a custom HL multigene panel (n = 237 genes) was performed in the index patient. The presence and segregation of the detected variant with HL was verified by Sanger sequencing. All affected individuals had postlingual progressive HL, mainly affecting high frequencies. In this study, a very rare previously reported p.Ser178Leu variant in TBC1D24 was identified in all family members with HL.ConclusionsOur study provides an independent confirmation of the pathogenic role of TBC1D24 p.Ser178Leu in HL. In individuals with ADHL-related TBC1D24 pathogenic variants, the cochlear component of the auditory system is affected. Patients may also report tinnitus but usually do not complain of vertigo