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Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children

dc.rights.licenseopenen_US
dc.contributor.authorGLENISSON, Mathilde
dc.contributor.authorGRAPIN, Mathilde
dc.contributor.authorBLANC, Thomas
dc.contributor.authorPREKA, Evgenia
dc.contributor.authorHOGAN, Julien
dc.contributor.authorAURELLE, Manon
dc.contributor.authorROUSSEY, Gwenaelle
dc.contributor.authorMOUCHE, Antoine
dc.contributor.authorROUSSET-ROUVIERE, Caroline
dc.contributor.authorNOVO, Robert
dc.contributor.authorFAUDEUX, Camille
dc.contributor.authorFILA, Marc
dc.contributor.authorVRILLON, Isabelle
dc.contributor.authorCLOAREC, Sylvie
dc.contributor.authorSIMON, Thomas
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorHARAMBAT, Jerome
dc.contributor.authorCASADO, Edouard Martinez
dc.contributor.authorROD, Julien
dc.contributor.authorLECOINDRE, Morgane Carre
dc.contributor.authorHEIDET, Laurence
dc.contributor.authorBOYER, Olivia
dc.contributor.authorGARCELON, Nicolas
dc.contributor.authorKACHMAR, Jessica
dc.contributor.authorDORVAL, Guillaume
dc.contributor.authorSARNACKI, Sabine
dc.date.accessioned2025-04-25T08:31:25Z
dc.date.available2025-04-25T08:31:25Z
dc.date.issued2025-01-06
dc.identifier.issn2468-0249en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/206429
dc.description.abstractEnIntroduction: Denys-Drash syndrome (DDS) is a rare disease typically associated with a triad of early onset nephrotic syndromes (NS), susceptibility to Wilms tumor (WT), and genitourinary structural defects. DDS is caused by Wilms’ tumor suppression gene (WT1) variants, with the most frequent variants in exons 8 and 9. This study aimed to evaluate the long-term clinical outcomes and genotype-to-phenotype correlations in a large, multicenter cohort of children with typical DDS. Methods: We conducted a national retrospective study of all children diagnosed with a pathogenic variant in WT1 exons 8 or 9 in France between 2000 and 2022. Results: Fifty-eight children with DDS and variants in exons 8 (n = 23) and 9 (n = 35) of the WT1 gene were identified. Half of the children presented with NS (57% congenital, median age at presentation 0.3 years [interquartile range, IQR: 0.0–0.6]). Twenty-nine percent of children developed WT at a median age of 1.2 (0.5–2.2) years. Children with a variant in exon 8 developed NS much earlier than those with a variant in exon 9 (P = 0.0048), regardless of the type of genetic variation, leading to earlyier kidney failure (KF) (0.3 vs.1.4 years respectively; P = 0.0001) and higher mortality (35% vs 9%, P = 0.02). More than 90% of the truncating variants were located in exon 9 and were significantly associated with the occurrence of WT compared with the DNA-binding-site variants (P < 0.0015). Conclusion: In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care. © 2025 International Society of Nephrology
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enDenys-drash syndrome
dc.subject.enNephrotic
dc.subject.ensyndrome WT1
dc.title.enGenotype-Phenotype Correlations in Denys-Drash Syndrome in Children
dc.title.alternativeKidney Int Repen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ekir.2025.01.014en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
bordeaux.journalKidney International Reportsen_US
bordeaux.page1205-1212en_US
bordeaux.volume10en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-05046499
hal.version1
hal.date.transferred2025-04-25T08:31:29Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Kidney%20International%20Reports&amp;rft.date=2025-01-06&amp;rft.volume=10&amp;rft.issue=4&amp;rft.spage=1205-1212&amp;rft.epage=1205-1212&amp;rft.eissn=2468-0249&amp;rft.issn=2468-0249&amp;rft.au=GLENISSON,%20Mathilde&amp;GRAPIN,%20Mathilde&amp;BLANC,%20Thomas&amp;PREKA,%20Evgenia&amp;HOGAN,%20Julien&amp;rft.genre=article


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