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      Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.

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      Nephron

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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
          Nephron
          Nephron
          1660-8151
          1660-8151
          1997
          : 75
          : 4
          Affiliations
          [1 ] Department of Pediatrics, Seoul National University Children's Hospital, Korea.
          Article
          10.1159/000189581
          9127330

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