Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
Nina MannSlim MzoughiRonen SchneiderSusanne J KühlDenny SchanzeVerena KlämbtSvjetlana LovricYouying MaoShasha ShiWeizhen TanMichael KühlAna C Onuchic-WhitfordErnestine TreimerThomas M KitzlerFranziska KauseSven SchumannMakiko NakayamaFlorian BuergerShirlee ShrilAmelie T van der VenAmar J MajmundarKristina Marie HoltonAmy KolbDaniela A BraunJia RaoTilman Jobst-SchwanEva MildenbergerThomas LennertAlma KuechlerDagmar WieczorekOliver GrossBeate Ermisch-OmranAnja WerbergerMartin SkalejAndreas R JaneckeNeveen A SolimanShrikant M ManeRichard P LiftonJan KadlecErnesto GuccioneMichael J SchmeisserMartin ZenkerFriedhelm HildebrandtPublished in: Journal of the American Society of Nephrology : JASN (2021)
Variants in PRDM15 can cause either isolated nephrotic syndrome or a GAMOS-type syndrome on an allelic basis. PRDM15 regulates multiple developmental kidney genes, and is likely to play an essential role in renal development in humans.