{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T18:29:36Z","timestamp":1783103376361,"version":"3.54.6"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,11,10]],"date-time":"2015-11-10T00:00:00Z","timestamp":1447113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> patients presenting non\u2010syndromic hearing loss with presumptive autosomal recessive (<jats:italic>n<\/jats:italic>\u2009=\u200950) or autosomal dominant (<jats:italic>n<\/jats:italic>\u2009=\u200950) patterns of inheritance. Rare copy number variants (<jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content>) were detected in 12 probands; four of the detected <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> comprised genes previously associated with hearing loss (<jats:italic><jats:styled-content style=\"fixed-case\">POU4F3<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">EYA4<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">USH2A<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">BCAP31<\/jats:styled-content><\/jats:italic>) and were considered causative, stressing the contribution of genomic imbalance to non\u2010syndromic deafness. In six cases, segregation of the <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> in pedigrees excluded them as causative. In one case, segregation could not be investigated, while in another case, a point mutation likely explains the phenotype. These findings show that the presumptive patterns of inheritance were incorrect in at least two cases, thereby impacting genetic counselling. In addition, we report the first duplication reciprocal to the rare <jats:italic><jats:styled-content style=\"fixed-case\">ABCD1<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">BCAP31<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">SLC6A8<\/jats:styled-content><\/jats:italic> contiguous deletion syndrome; as with most microduplication syndromes, the associated phenotype is much milder than the respective microdeletion and, in this case, was restricted to hearing impairment.<\/jats:p>","DOI":"10.1111\/cge.12683","type":"journal-article","created":{"date-parts":[[2015,10,12]],"date-time":"2015-10-12T22:48:28Z","timestamp":1444690108000},"page":"473-477","source":"Crossref","is-referenced-by-count":21,"title":["Genomic copy number alterations in non\u2010syndromic hearing loss"],"prefix":"10.1111","volume":"89","author":[{"given":"C.","family":"Rosenberg","sequence":"first","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9. L.","family":"Freitas","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. T.","family":"Uehara","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. T. B. M.","family":"Auricchio","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. S.","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Oiticica","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Medical School University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. G.","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. C.","family":"Krepischi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. C.","family":"Mingroni\u2010Netto","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Bioscience University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,10]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Deafness and Hereditary Hearing Loss Overview","author":"Smith RJH","year":"1993"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01276.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm554"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-10-380"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.134"},{"key":"e_1_2_9_7_1","article-title":"A novel KCNQ4 mutation and a private IMMP2L\u2010DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family","author":"Mingroni\u2010Netto RC","year":"2015","journal-title":"Hum Genome Var"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0121"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-15-1155"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6815-14-9"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570311.x"},{"key":"e_1_2_9_12_1","first-page":"379","article-title":"Moderate hearing loss and pseudodominant inheritance due to L90P\/35delG mutations in the GJB2 (connexin 26) gene","volume":"14","author":"Tekin M","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12355"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-19"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063685"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12683","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T01:57:32Z","timestamp":1696298252000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,10]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["10.1111\/cge.12683"],"URL":"https:\/\/doi.org\/10.1111\/cge.12683","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,10]]}}}