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Article

Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.

Genes - 19 Aug 2021

Le Nabec Anaïs, Collobert Mégane, Le Maréchal Cédric, Marianowski Rémi, Férec Claude, Moisan Stéphanie

Abstract excerpt

Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome sequencing (WGS) was performed on 10 DFNB1 patients with incomplete genotypes. New variations on GJB2 were identified...

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Share to Promoter Regions, Genetic
Share to Connexin 26
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genome, Human

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Source

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Identifiers

PMID: 34440441
DOI: 10.3390/genes12081267
PMCID: PMC8391926

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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