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Article

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.

Molecular genetics & genomic medicine - 1 Sept 2026

Zhang Yu, Yuan Shimei, Wan Yafang, Li Tian, Xu Lanlan, Yang Wei, Niu Changchun

Abstract excerpt

BACKGROUND: Hereditary hearing loss is a genetically heterogeneous disorder posing challenges for molecular diagnosis. This study aimed to characterize the mutation spectrum, including rare and previously unreported variants, using a tiered strategy in a Han Chinese cohort from Southwest China. METHODS: In this retrospective study, 43 patients underwent targeted hotspot screening, followed by whole-exome...

Read the complete abstract on PubMed

Topics

Adolescent
Adult
Child
Child, Preschool
Female
Humans
Male

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

Young Adult

Cadherins

China

Connexin 26

Exome Sequencing

Hearing Loss

Membrane Proteins

Mutation

Retrospective Studies

Sulfate Transporters

East Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 42764263
DOI: 10.1002/mgg3.70291
PMCID: PMC13590426

Genes

CDH23
ILDR1
SLC12A2
GJB2
OTOF
SLC26A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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