Article
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
Journal of the American Society of Nephrology : JASN - 1 Aug 2017
Vivante Asaf, Mann Nina, Yonath Hagith, Weiss Anna-Carina, Getwan Maike, Kaminski Michael M, Bohnenpoll Tobias, Teyssier Catherine, Chen Jing, Shril Shirlee, van der Ven Amelie T, Ityel Hadas, Schmidt Johanna Magdalena, Widmeier Eugen, Bauer Stuart B, Sanna-Cherchi Simone, Gharavi Ali G, Lu Weining, Magen Daniella, Shukrun Rachel, Lifton Richard P, Tasic Velibor, Stanescu Horia C, Cavaillès Vincent, Kleta Robert, Anikster Yair, Dekel Benjamin, Kispert Andreas, Lienkamp Soeren S, Hildebrandt Friedhelm
Abstract excerpt
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the causative mutation remains unknown. We identified a kindred with an autosomal dominant form of CAKUT. By whole-exome sequencing, we identified a heterozygous truncating mutation (c.279delG, p.Trp93fs*) of the nuclear receptor interacting...
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