{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T09:48:15Z","timestamp":1788515295554,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,12,30]],"date-time":"2007-12-30T00:00:00Z","timestamp":1198972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>\n                    Branchio\u2010oto\u2010renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features. STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the\n                    <jats:italic>COL2A1<\/jats:italic>\n                    . BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in\n                    <jats:italic>EYA1<\/jats:italic>\n                    ,\n                    <jats:italic>SIX1<\/jats:italic>\n                    and\n                    <jats:italic>SIX5<\/jats:italic>\n                    . In this study, we have clinically and genetically diagnosed a proband that displayed STL1 and BOR syndromes. This patient and his younger brother exhibited hearing loss and cleft palate. Both siblings and their mother also showed myopia, congenital non\u2010progressive vitreous anomaly and a flat face. Taken together, these clinical features are consistent with the diagnosis of a familial case of STL. Sequence analysis revealed in the three patients a novel\n                    <jats:italic>COL2A1<\/jats:italic>\n                    mutation (c.1468_1475delinsT) that accounted for a STL1 phenotype. The proband also displayed pre\u2010auricular pits, branchial fistulae and renal agenesis that define BOR syndrome. Interestingly, this patient carries an\n                    <jats:italic>EYA1<\/jats:italic>\n                    mutation, p.R328X, which was not present in the two other patients or in his healthy father, supporting that the mutation arose\n                    <jats:italic>de novo<\/jats:italic>\n                    . In conclusion, this report highlights the importance of molecular testing and detailed clinical evaluation for the diagnosis of syndromes with overlapping phenotypic features.\n                  <\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00947.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T05:23:40Z","timestamp":1232688220000},"page":"262-267","source":"Crossref","is-referenced-by-count":18,"title":["Stickler and branchio\u2010oto\u2010renal syndromes in a patient with mutations in\n                    <i>EYA1<\/i>\n                    and\n                    <i>COL2A1<\/i>\n                    genes"],"prefix":"10.1111","volume":"73","author":[{"given":"L","family":"Olavarrieta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Morales\u2010Angulo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Del Castillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MA","family":"Moreno\u2010Pelayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,12,30]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"192","volume-title":"Genetic hearing impairment. Advances in oto\u2010rhino\u2010laryngology","author":"Kemperman MH","year":"2002"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10067"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31561"},{"key":"e_1_2_6_5_2","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000484770","article-title":"BOR and BO syndromes are allelic defects of EYA1","volume":"5","author":"Vincent C","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420316"},{"key":"e_1_2_6_7_2","first-page":"216","volume-title":"Genetic hearing impairment. Advances in oto\u2010rhino\u2010laryngology","author":"Admiraal RJC","year":"2002"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/506478"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00008"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0934-8832(11)80108-3"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.3109\/03008209309016826"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010510"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20347"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62938-3"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31285"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00947.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00947.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T03:26:59Z","timestamp":1696908419000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00947.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,30]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00947.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00947.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,30]]}}}