title: Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.
abstract: We identified three novel mutations of the arginine vasopressin (AVP) V2 receptor (AVPR2) gene in Japanese families with X-linked congenital nephrogenic diabetes insipidus (NDI). In kindred #1 of siblings, a single base deletion of one out of three guanosines (nucleotides 786-788, 786delG) was detected. This deletion shifts the reading frame with an altered amino acid sequence and introduces a premature stop codon (TGA) at position 270. In kindred #2 of siblings and one unrelated additional patient (patient #3), point mutations that change the same Pro residue at codon 322 in the seventh transmembrane domain to either a Ser or His (P322S or P322H) were detected. This P322 residue is well conserved among rat V1 and V2 receptors, the human oxytocin receptor, and other G protein-coupled receptors, and is thought to be important for proper insertion of the receptor into the membrane. The AVPR2 mutations are heterogeneous both in Japanese and Caucasians populations.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: J
authors.initials: J
authors.lastname: Nakae
authors.forename: Y
authors.initials: Y
authors.lastname: Takekoshi
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: K
authors.initials: K
authors.lastname: Yuri
authors.forename: T
authors.initials: T
authors.lastname: Nagashima
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D001127:Arginine Vasopressin / Q000031:analogs & derivatives / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D003919:Diabetes Insipidus / Q000209:etiology / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D001127:Arginine Vasopressin