Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Amelie T van der VenDervla M ConnaughtonHadas ItyelNina MannMakiko NakayamaJing ChenAsaf VivanteDaw-Yang HwangJulian SchulzDaniela A BraunJohanna Magdalena SchmidtDavid SchapiroRonen SchneiderJillian K WarejkoAnkana DagaAmar J MajmundarWeizhen TanTilman Jobst-SchwanTobias HermleEugen WidmeierShazia AshrafAli AmarCharlotte A HoogstraatenHannah HugoThomas M KitzlerFranziska KauseCaroline M KolvenbachRufeng DaiLeslie SpaneasKassaundra AmannDeborah R SteinMichelle A BaumMichael J G SomersNancy M RodigMichael A FergusonAvram Z TraumGhaleb H DaoukRadovan BogdanovićNatasa StajićNeveen A SolimanJameela A KariSherif El DesokyHanan M FathyDanko MilosevicMuna Al-SaffarHazem S AwadLoai A EidAravind SelvinPrabha SenguttuvanSimone Sanna-CherchiHeidi L RehmDaniel G MacArthurMonkol LekKristen M LaricchiaMichael W WilsonShrikant M ManeRichard P LiftonRichard S LeeStuart B BauerWeining LuHeiko Martin ReutterVelibor TasicShirlee ShrilFriedhelm HildebrandtPublished in: Journal of the American Society of Nephrology : JASN (2018)
We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.