{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:36:18Z","timestamp":1765355778163,"version":"3.40.5"},"reference-count":28,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1,1]]},"abstract":"<jats:p>We report a case of Denys-Drash syndrome (DDS) in a 3-month-old girl presenting with bilateral renal cortical cysts mimicking polycystic kidney disease. Genetic analysis revealed a de novo heterozygous missense mutation c.1186G&amp;gt;A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for these renal manifestations, such as HNF-1\u03b2, PAX2, PKD1, and PKD2. Remarkably, we identified a heterozygous missense variant c.12439A&amp;gt;G (p.Lys4147Glu) in the PKD1 gene. The same variant was found in the patient\u2019s mother, who had no renal cysts, and in the grandfather, who had several renal cysts. Mutation prediction programs classified the c.12439A&amp;gt;G variant as being \u201clikely pathogenic.\u201d We hypothesize that the severe cystic phenotype in the index patient could be due to the WT1 mutation, enhancing pathogenicity of the \u201chypomorph\u201d PKD1 allele. A possible role for Wilms tumor suppressor 1 (WT1) in renal cyst development should be considered. From a conceptual point of view, this case shows that an unusual presentation of a known genetic syndrome might point to bigenic inheritance, with unexpected interference of mutated genes causing an uncommon clinical phenotype.<\/jats:p>","DOI":"10.1542\/peds.2013-1524","type":"journal-article","created":{"date-parts":[[2013,12,31]],"date-time":"2013-12-31T01:45:21Z","timestamp":1388454321000},"page":"e252-e256","source":"Crossref","is-referenced-by-count":5,"title":["An Unusual Presentation of Denys-Drash Syndrome Due to Bigenic Disease"],"prefix":"10.1542","volume":"133","author":[{"given":"Benedicte","family":"Eneman","sequence":"first","affiliation":[{"name":"Departments of Pediatric Nephrology and"},{"name":"Department of Development and Regeneration, Catholic University of Leuven, Leuven, Belgium;"},{"name":"Research Foundation Flanders, Brussels, Belgium; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djalila","family":"Mekahli","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Nephrology and"},{"name":"Department of Development and Regeneration, Catholic University of Leuven, Leuven, Belgium;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Pierre","family":"Audrezet","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d\u2019Histocompatibilit\u00e9, Centre Hospitalier R\u00e9gional Universitaire H\u00f4pital Morvan, Brest, France;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyne","family":"Lerut","sequence":"additional","affiliation":[{"name":"Pathology, University Hospitals Leuven, Leuven, Belgium;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Van Damme-Lombaerts","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Nephrology 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