{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:55:17Z","timestamp":1791320117384,"version":"4.3.1"},"reference-count":51,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations of the <jats:italic>Wilms tumor suppressor-1 gene<\/jats:italic> (<jats:italic>WT1)<\/jats:italic> are associated with life-threatening glomerulopathy, disorders of sexual development, Wilm's tumor, and gonadal malignancies. Our objectives were to describe the clinical presentations, age of progression, and onset of complications of <jats:italic>WT1 mutation<\/jats:italic> through a case series and literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective study included all patients followed at the University of Miami\/Holtz Children's Hospital from January 2000 to December 2020 with a diagnosis of <jats:italic>WT1 mutation<\/jats:italic>. A literature review of <jats:italic>WT1 mutation<\/jats:italic> cases was analyzed for clinical manifestations, karyotype, and long-term outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The <jats:italic>WT1 mutation<\/jats:italic> was identified in 9 children, median age at presentation of 0.9 years (range 1 week to 7 years). A total of four had female phenotypes, and 5 had abnormalities of male external genitalia, while all had XY karyotypes. All progressed to end-stage kidney disease (ESKD) and received a kidney transplant at a median age of 5 years (1.5\u201315 years). During a median time of follow-up of 9 years (range 2\u201328 years), there were 2 allograft losses after 7 and 10 years and no evidence of post-transplant malignancy. From 333 cases identified from the literature review, the majority had <jats:italic>female phenotype<\/jats:italic> 66% (219\/333), but the predominant <jats:italic>karyotype was XY<\/jats:italic> (55%, 183\/333). Of the female phenotypes, 32% (69\/219) had XY sex reversal. Wilm's tumor occurred in 24%, predominantly in males with gonadal anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Early recognition of <jats:italic>WT1 mutation<\/jats:italic> is essential for comprehensive surveillance of potential malignancy, avoidance of immunosuppressants for glomerulopathy, and establishing long-term multidisciplinary management.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.847295","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T06:04:05Z","timestamp":1650002645000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":26,"title":["Spectrum of Clinical Manifestations in Children With WT1 Mutation: Case Series and Literature Review"],"prefix":"10.3389","volume":"10","author":[{"given":"Patricia","family":"Arroyo-Parejo Drayer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wacharee","family":"Seeherunvong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chryso P.","family":"Katsoufis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marissa J.","family":"DeFreitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tossaporn","family":"Seeherunvong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayanthi","family":"Chandar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn 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