Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
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ABSTRACT:
SUBMITTER: Le Nabec A
PROVIDER: S-EPMC8391926 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
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Whole-Genome Sequencing Improves the Diagnosis of <i>DFNB1</i> Monoallelic Patients.
Le Nabec Anaïs A Collobert Mégane M Le Maréchal Cédric C Marianowski Rémi R Férec Claude C Moisan Stéphanie S
Genes 20210819 8
Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the <i>GJB2</i> 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 <i>DFNB1</i> patients with incomplete genotypes. New variations on <i>GJB2</i> were identified for four patients. Functional assays were realized to explore t ...[more]
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