{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T14:50:13Z","timestamp":1782831013534,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,6,23]],"date-time":"2006-06-23T00:00:00Z","timestamp":1151020800000},"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":[[2006,7]]},"abstract":"<jats:p>Branchio\u2010oto\u2010renal (BOR) syndrome is an autosomal dominant disorder characterized by the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic (BO) syndrome is a related disorder that presents without the highly variable characteristic renal anomalies of BOR syndrome. Dominant mutations in the human homologue of the Drosophila eyes absent gene (<jats:italic>EYA1<\/jats:italic>) are frequently the cause of both BOR and BO syndromes. We report a South African family of Afrikaner descent with affected individuals presenting with pre\u2010auricular abnormalities and either hearing loss or bilateral absence of the kidneys. Genetic analysis of the pedigree detected a novel <jats:italic>EYA1<\/jats:italic> heterozygous nonsense mutation in affected family members but not in unaffected family members or a random DNA panel. Through mutational analysis, we conclude that this particular mutation is the cause of BOR\/BO syndrome in this family as a result of a truncation of the EYA1 protein that ablates the critical EYA homologous region. To the best of our knowledge, this is the first case of BOR\/BO syndrome reported in Africa or in those of the Afrikaner descent.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00642.x","type":"journal-article","created":{"date-parts":[[2006,6,23]],"date-time":"2006-06-23T15:14:20Z","timestamp":1151075660000},"page":"63-67","source":"Crossref","is-referenced-by-count":10,"title":["A novel nonsense mutation in the <i>EYA1<\/i> gene associated with branchio\u2010oto\u2010renal\/branchiootic syndrome in an Afrikaner kindred"],"prefix":"10.1111","volume":"70","author":[{"given":"JC","family":"Clarke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EM","family":"Honey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Bekker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LC","family":"Snyman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"RM","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PD","family":"Brophy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,6,23]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/302890"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.13.2247"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-157"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1159\/000484770"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200877"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070316"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-003-1374-z"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.22.11974"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/12722"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.13.3033"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01437"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.05.029"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.1.219"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.10.6815"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20048"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10241"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580413"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308475101"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2006.00642.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2006.00642.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:33:28Z","timestamp":1696894408000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2006.00642.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,23]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,7]]}},"alternative-id":["10.1111\/j.1399-0004.2006.00642.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00642.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":[[2006,6,23]]}}}