{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:06:45Z","timestamp":1792145205876,"version":"4.4.0"},"reference-count":35,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T00:00:00Z","timestamp":1672272000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital hearing loss has an impact on almost every facet of life. In more than 50% of cases, a genetic cause can be identified. Currently, extensive genetic testing is available, although the etiology of some patients with obvious familial hearing loss remains unknown. We selected a cohort of mutation-negative patients to optimize the diagnostic yield for genetic hearing impairment. In this retrospective study, 21 patients (17 families) with negative molecular diagnostics for non-syndromic hearing loss (gene panel analysis) were included based on a positive family history with a similar type of hearing loss. Additional genetic testing was performed using a whole exome sequencing panel (WESHL panel v2.0) in four families with the strongest likelihood of genetic hearing impairment. In this cohort (n = 21), the severity of hearing loss was most commonly moderate (52%). Additional genetic testing revealed pathogenic copy number variants in the STRC gene in two families. In summary, regular re-evaluation of hearing loss patients with presumably genetic etiology after negative molecular diagnostics is recommended, as we might miss newly discovered deafness genes. The switch from gene panel analysis to whole exome sequencing or whole genome sequencing for the testing of congenital hearing loss seems promising.<\/jats:p>","DOI":"10.3390\/genes14010105","type":"journal-article","created":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T03:14:28Z","timestamp":1672370068000},"page":"105","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?"],"prefix":"10.3390","volume":"14","author":[{"given":"Thomas","family":"Clabout","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3971-760X","authenticated-orcid":false,"given":"Laurence","family":"Maes","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6312-4260","authenticated-orcid":false,"given":"Frederic","family":"Acke","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Ghent University Hospital, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4349-9038","authenticated-orcid":false,"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics, Antwerp University Hospital and University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristof","family":"Van Schil","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics, Antwerp University Hospital and University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7262-3715","authenticated-orcid":false,"given":"Sandra","family":"Janssens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2789-3529","authenticated-orcid":false,"given":"Els","family":"De Leenheer","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Ghent University Hospital, Corneel Heymanslaan 10, B-9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/978-981-13-6123-4_5","article-title":"Diagnosis, Intervention, and Prevention of Genetic Hearing Loss","volume":"1130","author":"Yang","year":"2019","journal-title":"Adv. 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