Functional analysis of BMP4 mutations identified in pediatric CAKUT patients
- Tabatabaeifar M.
- Schlingmann K. -P.
- Litwin M.
- Emre S.
- Bakkaloglu A.
- Mehls O.
- Antignac C.
- Schaefer F.
- Weber S.
- Anarat A.
- Ozaltin F.
- Peco-Antic A.
- Querfeld U.
- Gellermann J.
- Sallay P.
- Drozdz D.
- Bonzel K. -E.
- Wingen A. -M.
- Zurowska A.
- Balasz I.
- Perfumo F.
- Canepa A.
- Muller-Wiefel D. E.
- Zepf K.
- Offner G.
- Enke B.
- Wuhl E.
- Hadtstein C.
- Berg U.
- Celsi G.
- Sirin A.
- Bilge I.
- Caliskan S.
- Mir S.
- Serdaroglu E.
- Greiner C.
- Eichstadt H.
- Wygoda S.
- Hohbach-Hohenfellner K.
- Jeck N.
- Klaus G.
- Appiani A.
- Ardissino G.
- Testa S.
- Montini G.
- Niaudet P.
- Charbit M.
- Dusek J.
- Caldas-Afonso A.
- Teixeira A.
- Picca S.
- Matteucci C.
- Wigger M.
- Fischbach M.
- Terzic J.
- Fydryk J.
- Urasinski T.
- Coppo R.
- Peruzzi L.
- Jankauskiene A.
- Abuauba M.
- Grenda R.
- Arbeiter K.
- Neuhaus T. J.
DOIAbstract
Human congenital anomalies of the kidney and urinary tract (CAKUT) represent the major causes of chronic renal failure (CRF) in children. This set of disorders comprises renal agenesis, hypoplasia, dysplastic or double kidneys, and/or malformations of the ureter. It has recently been shown that mutations in several genes, among them BMP4, are associated with hereditary renal developmental diseases. In BMP4, we formerly identified three missense mutations (S91C, T116S, N150K) in five pediatric CAKUT patients. These BMP4 mutations were subsequently studied in a cellular expression system, and here we present functional data demonstrating a lower level of messenger RNA (mRNA) abundance in Bmp4 mutants that indicates a possible negative feedbac...
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