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Article

A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Liang Yuan, Wang Kangwei, Peng Qi, Zhu Pengyuan, Wu Chunqiu, Rao Chunbao, Chang Jiang, Li Siping, Lu Xiaomei

Abstract excerpt

OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss. METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and...

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Source

Identifiers

PMID: 29287849
DOI: 10.1016/j.ijporl.2017.11.009

Genes

CDH23
GJB2
GJB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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