title: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
abstract: Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI.
authors.affiliation: Department of Pediatrics, University of Nijmegen, The Netherlands.
authors.forename: A F
authors.initials: AF
authors.lastname: van Lieburg
authors.forename: M A
authors.initials: MA
authors.lastname: Verdijk
authors.forename: V V
authors.initials: VV
authors.lastname: Knoers
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: W
authors.initials: W
authors.lastname: Proesmans
authors.forename: R
authors.initials: R
authors.lastname: Mallmann
authors.forename: L A
authors.initials: LA
authors.lastname: Monnens
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: C H
authors.initials: CH
authors.lastname: van Os
authors.forename: P M
authors.initials: PM
authors.lastname: Deen
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D051398:Aquaporin 1; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D001483:Base Sequence; D001789:Blood Group Antigens; D017931:DNA Primers; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006720:Homozygote; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000502:physiology; D007685:Kidney Tubules, Collecting / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009865:Oocytes / Q000502:physiology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D017384:Sequence Deletion; D014960:X Chromosome; D014981:Xenopus
chemical_list: C496020:AQP1 protein, human; C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D001789:Blood Group Antigens; D017931:DNA Primers; D007473:Ion Channels; D051398:Aquaporin 1