title: Nephronophthisis.
abstract: There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene defects. These genes encode proteins that localize in different cell compartments - in particular, to the primary apical cilia - as is the case for virtually all gene products involved in cystic kidney diseases. Two animal models with mutations in the mouse orthologs of the genes involved in the adolescent and infantile forms also exist. These models have been of considerable help in deciphering disease pathogenesis.
authors.affiliation: Inserm U574 and Department of Genetics, Paris 5 University, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Saunier
authors.forename: Rémi
authors.initials: R
authors.lastname: Salomon
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
mesh_terms: D000818:Animals; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D013577:Syndrome