title: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
abstract: X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney-specific V2 vasopressin receptor, a G protein-coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense mutation which would terminate the protein in transmembrane domain III. Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor.
authors.affiliation: Howard Hughes Medical Institute, University of California, San Francisco 94143.
authors.forename: Y
authors.initials: Y
authors.lastname: Pan
authors.forename: A
authors.initials: A
authors.lastname: Metzenberg
authors.forename: S
authors.initials: S
authors.lastname: Das
authors.forename: B
authors.initials: B
authors.lastname: Jing
authors.forename: J
authors.initials: J
authors.lastname: Gitschier
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003919:Diabetes Insipidus / Q000235:genetics*; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051381:Rats; D017483:Receptors, Vasopressin / Q000235:genetics*; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
chemical_list: D017483:Receptors, Vasopressin; D004247:DNA