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      Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes insipidus

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          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.

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          Author and article information

          Journal
          NEF
          Nephron
          10.1159/issn.1660-8151
          Nephron
          S. Karger AG
          1660-8151
          2235-3186
          1997
          1997
          19 December 2008
          : 75
          : 4
          : 431-437
          Affiliations
          Departments of Pediatrics, aSeoul National University Children’s Hospital, bSeoul City Boramae Hospital, cAsan Medical Center, dHanyang University Hospital, and eDepartment of Obstetrics and Gynecology, Seoul National University Hospital, Seoul, Korea
          Article
          189581 Nephron 1997;75:431–437
          10.1159/000189581
          9127330
          © 1997 S. Karger AG, Basel

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          Page count
          Pages: 7
          Categories
          Original Paper

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