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Letter

Nature Genetics 38, 674–681 (1 June 2006) | doi:10.1038/ng1786

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A Sayer , Edgar A Otto , John F O'Toole , Gudrun Nurnberg , Michael A Kennedy , Christian Becker , Hans Christian Hennies , Juliana Helou , Massimo Attanasio , Blake V Fausett , Boris Utsch , Hemant Khanna , Yan Liu , Iain Drummond , Isao Kawakami , Takehiro Kusakabe , Motoyuki Tsuda , Li Ma , Hwankyu Lee , Ronald G Larson , Susan J Allen , Christopher J Wilkinson , Erich A Nigg , Chengchao Shou , Concepcion Lillo , David S Williams , Bernd Hoppe , Markus J Kemper , Thomas Neuhaus , Melissa A Parisi , Ian A Glass , Marianne Petry , Andreas Kispert , Joachim Gloy , Athina Ganner , Gerd Walz , Xueliang Zhu , Daniel Goldman , Peter Nurnberg , Anand Swaroop , Michel R Leroux & Friedhelm Hildebrandt

The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis.