Florian J Wopperer, Karl X Knaup, Kira J Stanzick, Karen Schneider, Tilman Jobst-Schwan, Arif B Ekici, Steffen Uebe, Andrea Wenzel, Stefan Schliep, Carsten Schürfeld, Randolf Seitz, Wanja Bernhardt, Markus Gödel, Antje Wiesener, Bernt Popp, Klaus J Stark, Hermann-Josef Gröne, Björn Friedrich, Martin Weiß, Nikolina Basic-Jukic, Mario Schiffer, Bernd Schröppel, Bruno Huettel, Bodo B Beck, John A Sayer, Christine Ziegler, Maike Büttner-Herold, Kerstin Amann, Iris M Heid, André Reis, Francesca Pasutto, Michael S Wiesener
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD registry. Sequencing for all known ADTKD genes was performed, followed by SNaPshot minisequencing for the dupC (an additional cytosine within a stretch of seven cytosines) mutation of MUC1...
August 2022: Kidney International