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Letter

Nature Genetics 39, 882–888 (1 July 2007) | doi:10.1038/ng2069

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H Arts , Dan Doherty , Sylvia E C van Beersum , Melissa A Parisi , Stef J F Letteboer , Nicholas T Gorden , Theo A Peters , Tina M|[auml]|rker , Krysta Voesenek , Aileen Kartono , Hamit Ozyurek , Federico M Farin , Hester Y Kroes , Uwe Wolfrum , Han G Brunner , Frans P M Cremers , Ian A Glass , Nine V A M Knoers & Ronald Roepman

Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-L|[oslash]|ken syndrome (SLSN) or Joubert syndrome (JBTS). However, details of the molecular mechanisms underlying these disorders remain poorly understood.