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Article

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

Scientific reports - 15 Dec 2025

Matsuzaki Saeko, Nara Kiyomitsu, Mutai Hideki, Katsunuma Sayaka, Sakamoto Hirokazu, Hirose Mizuki, Wakisaka Naohiro, Adachi Nodoka, Asanuma Satoshi, Fujioka Masato, Matsunaga Tatsuo

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41398421
DOI: 10.1038/s41598-025-27772-6
PMCID: PMC12705733

Genes

COL4A4
COL4A5

Provenance

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