title: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
abstract: Nephrogenic diabetes insipidus (DIR) is an X-linked disorder characterized by insensitivity of the distal nephron for the pituitary hormone, vasopressin. The genetic map location of the DIR gene on chromosome Xq28 coincides with the physical map location of the functional vasopressin renal V2-type receptor. Recently, the human and rat cDNAs for the vasopressin V2 receptor (AVPR2) have been identified. We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is within the genetic map location of DIR. We also tested eight X-linked DIR probands and their families for mutations in one of the most conserved extracellular regions of AVPR2: in three of them, we have identified point mutations resulting in non-conservative amino acid substitutions which cosegregated with DIR in all families.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: J C
authors.initials: JC
authors.lastname: Dreesen
authors.forename: M
authors.initials: M
authors.lastname: Verdijk
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
authors.forename: L A
authors.initials: LA
authors.lastname: Monnens
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D003919:Diabetes Insipidus / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D017483:Receptors, Vasopressin / Q000737:chemistry / Q000235:genetics*; D014960:X Chromosome
chemical_list: D017483:Receptors, Vasopressin; D004247:DNA