{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T20:35:47Z","timestamp":1761510947008},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,2,14]],"date-time":"2011-02-14T00:00:00Z","timestamp":1297641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aim:\u2002<\/jats:bold> The Wilms\u2019 Tumour gene is thought to have tumour suppressor activity and to play an important role in nephrogenesis, genitourinary development, haematopoiesis and sex determination. WT1 mutations will impair gonadal and urinary tract development and have been demonstrated to cause syndromes of WAGR, Denys\u2013Drash and Fraiser.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> To elucidate the role of constitutional mutations of WT1, in the expression of the different clinical feature, we describe a 14\u2010year\u20109\u2010month nonmosaic XY sex\u2010reversed woman with pure gonadal dysgenesis (46, XY karyotype, completely female external genitalia, normal Mullerian ducts, absence of Wolffian ducts, streak gonads) who had right kidney removed at 7\u2003months of age because of Wilms\u2019 tumour and was diagnosed as secondary thrombocytopenia (Plt 60\u201380\u2003\u00d7\u200310<jats:sup>9<\/jats:sup>\/L) since she was 4\u2003years old. We sequenced the genomic DNA of all the 10 exons of the WT1 in which mutations may occur in proposita.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> A new <jats:italic>de novo<\/jats:italic> insertion mutation in the first exon was found. A <jats:italic>\u2018GCCGCCTCACTCC<\/jats:italic>\u2019 is inserted between codon 138 and 139, resulting in the creation of a stop codon and a truncated protein.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> The present data provide further evidence to support the role of WT1 in diverse cellular functions.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02167.x","type":"journal-article","created":{"date-parts":[[2011,2,14]],"date-time":"2011-02-14T12:36:49Z","timestamp":1297687009000},"update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["WT1 mutation as a cause of 46 XY DSD and Wilm\u2019s tumour: a case report and literature review"],"prefix":"10.1111","volume":"100","author":[{"given":"Yang\u2010li","family":"Dai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010Fen","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,14]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90515-R"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/343774a0"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-911X(199611)27:5<408::AID-MPO4>3.0.CO;2-Q"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.8.3972"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00593-5"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.6.471"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200202000-00002"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32330"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1649-z"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh038"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01780-06"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(01)00467-1"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2011.02167.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2011.02167.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T07:27:26Z","timestamp":1697441246000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2011.02167.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,14]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["10.1111\/j.1651-2227.2011.02167.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2011.02167.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,14]]},"assertion":[{"value":"2011-02-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}