{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:56:38Z","timestamp":1787730998137,"version":"build-2784847793"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T00:00:00Z","timestamp":1601164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["AZV 16\u201031173A"],"award-info":[{"award-number":["AZV 16\u201031173A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["DRO 00064203"],"award-info":[{"award-number":["DRO 00064203"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Non\u2010syndromic autosomal recessive hearing loss is an extremely heterogeneous disease caused by mutations in more than 80 genes. We examined Czech patients with early\/prelingual non\u2010syndromic, presumably genetic hearing loss (NSHL) without known cause after\n                    <jats:italic>GJB2<\/jats:italic>\n                    gene testing. Four hundred and twenty\u2010one unrelated patients were examined for\n                    <jats:italic>STRC<\/jats:italic>\n                    gene deletions with quantitative comparative fluorescent PCR (QCF PCR), 197 unrelated patients with next\u2010generation sequencing by custom\u2010designed NSHL gene panels and 19 patients with whole\u2010exome sequencing (WES). Combining all methods, we discovered the cause of the disease in 54 patients. The most frequent type of NSHL was DFNB16 (\n                    <jats:italic>STRC<\/jats:italic>\n                    ), which was detected in 22 patients, almost half of the clarified patients. Other biallelic pathogenic mutations were detected in the genes:\n                    <jats:italic>MYO15A, LOXHD1, TMPRSS3<\/jats:italic>\n                    (each gene was responsible for five clarified patients,\n                    <jats:italic>CDH23<\/jats:italic>\n                    (four clarified patients),\n                    <jats:italic>OTOG<\/jats:italic>\n                    and\n                    <jats:italic>OTOF<\/jats:italic>\n                    (each gene was responsible for two clarified patients). Other genes (\n                    <jats:italic>AIFM1, CABP2, DIAPH1, PTPRQ, RDX, SLC26A4, TBC1D24, TECTA, TMC1<\/jats:italic>\n                    ) that explained the cause of hearing impairment were further detected in only one patient for each gene.\n                    <jats:italic>STRC<\/jats:italic>\n                    gene mutations, mainly deletions remain the most frequent NSHL cause after mutations in the\n                    <jats:italic>GJB2<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.13839","type":"journal-article","created":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T03:22:49Z","timestamp":1598671369000},"page":"548-554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Spectrum and frequencies of non\n                    <scp>\n                      <i>GJB2<\/i>\n                    <\/scp>\n                    gene mutations in Czech patients with early non\u2010syndromic hearing loss detected by gene panel NGS and whole\u2010exome sequencing"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0572-7239","authenticated-orcid":false,"given":"Dana","family":"Safka Brozkova","sequence":"first","affiliation":[{"name":"DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Poisson Markov\u00e1","sequence":"additional","affiliation":[{"name":"DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6186-5142","authenticated-orcid":false,"given":"Anna Uhrov\u00e1","family":"M\u00e9sz\u00e1rosov\u00e1","sequence":"additional","affiliation":[{"name":"DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e1n","family":"Jen\u010d\u00edk","sequence":"additional","affiliation":[{"name":"DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vlasta","family":"\u010cejnov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Masaryk Hospital in Usti nad Labem, Regional Health Corporation  Usti nad Labem Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zden\u011bk","family":"\u010cada","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery, First Faculty of Medicine Charles University, Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"La\u0161t\u016fvkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Masaryk Hospital in Usti nad Labem, Regional Health Corporation  Usti nad Labem Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Ra\u0161kov\u00e1","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics and Reproductive Medicine Gennet  Prague 7 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Seeman","sequence":"additional","affiliation":[{"name":"DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460504"},{"key":"e_1_2_8_4_1","volume-title":"Hereditary Hearing Loss and its Syndromes","author":"Gorlin 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