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Article

A Novel Pathogenic Haplotype in CDH23 Causing DFNB12: The Combined Effect of Two Individually Benign Variants

Balkan medical journal - 1 Apr 2026

Tian Zi-Xin, Zhang Jun, Wang Zi-Xuan, Song Xi, Zhou Yi-Tao, Hu Ying-Yi

Abstract excerpt

Background: Aberrations in cadherin-related 23 (CDH23) account for a significant proportion of familial autosomal recessive non-syndromic hearing loss (DFNB12), a common subtype of hereditary hearing loss worldwide. Aims: To elucidate the molecular basis and pathogenic mechanism of DFNB12 in an affected girl from a nine-member pedigree. Study Design: Family-based genetic study with pedigree analysis. Methods:...

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Identifiers

PMID: 41614600
DOI: 10.4274/balkanmedj.galenos.2026.2025-11-226
PMCID: PMC13040107

Genes

CDH23

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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