{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T20:43:08Z","timestamp":1773434588952,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Denys\u2010Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and\/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision\u2010making.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present a patient with an XY karyotype and female appearance, nephropathy, and Wilms tumor in the right kidney. Genomic DNA was extracted from peripheral blood cells according to standard protocols. \u201cNext\u2010generation\u201d sequencing (NGS) was performed to identify novel variants. The variant was analyzed with Mutation Taster, and its function was explored by a cell growth inhibition assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found the first case of Denys\u2010Drash syndrome with the uncommon missense mutation (c.1420C&gt;T, p.His474\u00a0Tyr) in the<jats:italic>WT1<\/jats:italic>gene. In silico analysis, the variant was predicted \u201cdisease\u2010causing\u201d by Mutation Taster. The mutated variant showed a weaker effect in inhibiting tumor cells than wild\u2010type<jats:italic>WT1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The uncommon missense mutation (c.1420C&gt;T, p.His474\u00a0Tyr) in the<jats:italic>WT1<\/jats:italic>gene may be a crucial marker in DDS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23769","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T07:56:48Z","timestamp":1620115008000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel WT1 gene mutation in a chinese girl with denys\u2010drash syndrome"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-736X","authenticated-orcid":false,"given":"Faliang","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Surgical Oncology Children\u2019s Hospital National Clinical Research Center 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Surgical Oncology Children\u2019s Hospital National Clinical Research Center for Child Health Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"issue":"1","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1159\/000454821","article-title":"Ribeiro de Andrade JG, de Freitas Carli B, Belangero VM, Maciel\u2010Guerra AT, Guerra\u2010Junior G, de Mello MP: WT1 haploinsufficiency supports milder renal manifestation in two patients with Denys\u2010Drash syndrome","volume":"11","author":"Guaragna MS","year":"2017","journal-title":"Sexual development : genetics, molecular biology, evolution, 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