title: Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
abstract: X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deletions causing frameshifts, 1 was a duplication of 9 bases, and 1 was a compound gene rearrangement. Four mutations cosegregated with the clinical phenotype in corresponding family members, and one was a de novo mutation. In 1 family, prenatal diagnosis was made by amniocentesis. In conclusion, we found 6 novel mutations in the AVPR2 gene causing X-linked NDI in 6 families, and direct mutational analysis is now applicable for carrier detection and early (prenatal) diagnosis.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Korea.
authors.forename: H I
authors.initials: HI
authors.lastname: Cheong
authors.forename: H W
authors.initials: HW
authors.lastname: Park
authors.forename: I S
authors.initials: IS
authors.lastname: Ha
authors.forename: H N
authors.initials: HN
authors.lastname: Moon
authors.forename: Y
authors.initials: Y
authors.lastname: Choi
authors.forename: K W
authors.initials: KW
authors.lastname: Ko
authors.forename: J K
authors.initials: JK
authors.lastname: Jun
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D018500:Diabetes Insipidus, Nephrogenic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: D017483:Receptors, Vasopressin; D004247:DNA