Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.

ABSTRACT: Alport syndrome (AS) is a genetic disorder characterized by progressive nephritis, hearing loss, and visual impairment. Quantitative analyses of hearing in AS are rare. We conducted a retrospective chart review of clinical features and longitudinal follow-up of patients with AS, including multiple evaluations of pure-tone audiograms in each individual and examination of the relationships between hearing loss and genetic variants. Twelve AS cases from eight Japanese families were studied: one family had an autosomal dominant COL4A4 variant and seven carried X-linked variants in COL4A5; all cases presented with moderate hearing loss. Progression of hearing loss was 0.25, 0.29, 0.57, and 2.60 dB HL/year at 500, 1000, 4000, and 8000 Hz, respectively. During follow-up (1-10 years), all families

SUBMITTER: Matsuzaki S 

PROVIDER: S-EPMC12705733 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature