{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T22:01:45Z","timestamp":1775599305910,"version":"3.50.1"},"reference-count":39,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing loss (NSHL) cases are caused by hereditary factors. Previously, the majority of NSHL studies focused on the GJB2 gene; however, with the availability of next-generation sequencing (NGS) methods, the number of novel variants associated with NSHL has increased. The purpose of this study was to design effective genetic screening for a Hungarian population based on a pilot study with 139 NSHL patients. A stepwise, comprehensive genetic approach was developed, including bidirectional capillary sequencing, multiplex ligation-dependent probe amplification (MLPA), and an NGS panel of 108 hearing loss genes. With our results, a genetic diagnosis was possible for 92 patients. Sanger sequencing and MLPA identified the genetic background of 50% of these diagnosed cases, and the NGS panel identified another 16%. The vast majority (92%) of the diagnosed cases showed autosomal recessive inheritance and 76% were attributed to GJB2. The implementation of this stepwise analysis markedly increased our diagnostic yield and proved to be cost-effective as well.<\/jats:p>","DOI":"10.3390\/ijms24087401","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T02:30:03Z","timestamp":1681785003000},"page":"7401","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3662-0837","authenticated-orcid":false,"given":"Margit","family":"P\u00e1l","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6224-1972","authenticated-orcid":false,"given":"D\u00f3ra","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"},{"name":"Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, 4020 Linz, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Neller","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Farkas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00f3ra","family":"Lepr\u00e1n-T\u00f6r\u00f6k","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8576-7953","authenticated-orcid":false,"given":"Nikoletta","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalma","family":"F\u00fcst\u00f6s","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-4724","authenticated-orcid":false,"given":"Roland","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Oto-Rhino-Laryngology and Head-Neck Surgery, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9965-0609","authenticated-orcid":false,"given":"Adrienne","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"Department of Oto-Rhino-Laryngology and Head-Neck Surgery, University of P\u00e9cs, 7621 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Szilv\u00e1ssy","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head-Neck Surgery, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Rov\u00f3","sequence":"additional","affiliation":[{"name":"Department of Oto-Rhino-Laryngology and Head-Neck Surgery, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1332-3901","authenticated-orcid":false,"given":"J\u00f3zsef G\u00e9za","family":"Kiss","sequence":"additional","affiliation":[{"name":"Department of Oto-Rhino-Laryngology and Head-Neck Surgery, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Toriello, H.V., and Shelley, D. 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