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Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.

Human genetics - 1 Apr 2022

Usami Shin-Ichi, Isaka Yuichi, Miyagawa Maiko, Nishio Shin-Ya

Abstract excerpt

Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad range of phenotypes of non-syndromic hearing loss (DFNB12); from congenital profound hearing loss to late-onset high-frequency-involved progressive hearing loss. In this study, based on...

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Identifiers

PMID: 35020051
DOI: 10.1007/s00439-022-02431-2
PMCID: PMC9034991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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