{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:54:49Z","timestamp":1790754889196,"version":"4.1.0"},"reference-count":44,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T00:00:00Z","timestamp":1629331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondation pour l'Audition","award":["FPA RD-2018-9"],"award-info":[{"award-number":["FPA RD-2018-9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 for four patients. Functional assays were realized to explore the function of one of them in the GJB2 promoter and confirm its impact on GJB2 expression. Thus, in this study WGS resolved patient genotypes, thus unlocking diagnosis. WGS afforded progress and bridged some gaps in our research.<\/jats:p>","DOI":"10.3390\/genes12081267","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T09:58:06Z","timestamp":1629367086000},"page":"1267","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9921-1064","authenticated-orcid":false,"given":"Ana\u00efs","family":"Le Nabec","sequence":"first","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5396-8723","authenticated-orcid":false,"given":"M\u00e9gane","family":"Collobert","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Mar\u00e9chal","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d\u2019Histocompatibilit\u00e9, CHRU Brest, UMR 1078, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Marianowski","sequence":"additional","affiliation":[{"name":"Service ORL et Chirurgie Cervicofaciale du CHRU Brest, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"F\u00e9rec","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d\u2019Histocompatibilit\u00e9, CHRU Brest, UMR 1078, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9745-1152","authenticated-orcid":false,"given":"St\u00e9phanie","family":"Moisan","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d\u2019Histocompatibilit\u00e9, CHRU Brest, UMR 1078, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1016\/S0140-6736(98)11071-1","article-title":"Clinical features of the prevalent form of childhood deafness","volume":"353","author":"Denoyelle","year":"1999","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/ajmg.a.20588","article-title":"Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis","volume":"127","author":"Feldmann","year":"2004","journal-title":"Am. 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