Article
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Nature genetics - 8 Jul 2012
Zhou Weibin, Otto Edgar A, Cluckey Andrew, Airik Rannar, Hurd Toby W, Chaki Moumita, Diaz Katrina, Lach Francis P, Bennett Geoffrey R, Gee Heon Yung, Ghosh Amiya K, Natarajan Sivakumar, Thongthip Supawat, Veturi Uma, Allen Susan J, Janssen Sabine, Ramaswami Gokul, Dixon Joanne, Burkhalter Felix, Spoendlin Martin, Moch Holger, Mihatsch Michael J, Verine Jerome, Reade Richard, Soliman Hany, Godin Michel, Kiss Denes, Monga Guido, Mazzucco Gianna, Amann Kerstin, Artunc Ferruh, Newland Ronald C, Wiech Thorsten, Zschiedrich Stefan, Huber Tobias B, Friedl Andreas, Slaats Gisela G, Joles Jaap A, Goldschmeding Roel, Washburn Joseph, Giles Rachel H, Levy Shawn, Smogorzewska Agata, Hildebrandt Friedhelm
Abstract excerpt
Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis (KIN), a disorder that serves as a model for renal fibrosis. Renal histology in KIN is indistinguishable from that of nephronophthisis, except for the presence of karyomegaly. The FAN1...
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