{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T11:37:47Z","timestamp":1792409867726,"version":"4.4.0"},"reference-count":53,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T00:00:00Z","timestamp":1603324800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["D70-RESRICGIROTTO"],"award-info":[{"award-number":["D70-RESRICGIROTTO"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016990","name":"BENEFICENTIA STIFTUNG","doi-asserted-by":"publisher","award":["Beneficentia Stiftung"],"award-info":[{"award-number":["Beneficentia Stiftung"]}],"id":[{"id":"10.13039\/100016990","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital\/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients\u2019 future management.<\/jats:p>","DOI":"10.3390\/genes11111237","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T20:51:00Z","timestamp":1603399860000},"page":"1237","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population"],"prefix":"10.3390","volume":"11","author":[{"given":"Anna","family":"Morgan","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Lenarduzzi","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7432-4708","authenticated-orcid":false,"given":"Beatrice","family":"Spedicati","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"},{"name":"Department of Medicine, Surgery and Health Sciences, University of Trieste, 34125 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Cattaruzzi","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8954-8889","authenticated-orcid":false,"given":"Flora Maria","family":"Murru","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Pelliccione","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Mazz\u00e0","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-9519","authenticated-orcid":false,"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario A. Gemelli, IRCCS, UOC Genetica, 00168 Rome, Italy"},{"name":"Istituto di Medicina Genomica, Universit\u00e0 Cattolica Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3875-6869","authenticated-orcid":false,"given":"Claudio","family":"Graziano","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Ambrosetti","sequence":"additional","affiliation":[{"name":"Audiology and audiophonology, University of Milano\/Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1483-3612","authenticated-orcid":false,"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Girotto","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2013IRCCS \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"},{"name":"Department of Medicine, Surgery and Health Sciences, University of Trieste, 34125 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,22]]},"reference":[{"key":"ref_1","unstructured":"Allen, S.B., and Goldman, J. (2019). 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