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Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

Nature Genetics volume 2, pages 99–102 (1992)Cite this article

Abstract

Nephrogenic diabetes insipidus (DIR) is an X–linked disorder characterized by insensitivity of the distal nephron for the pituitary hormone, vasopressin. The genetic map location of the DIR gene on chromosome Xq28 coincides with the physical map location of the functional vasopressin renal V2–type receptor. Recently, the human and rat cDNAs for the vasopressin V2 receptor (AVPR2) have been identified. We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is within the genetic map location of DIR. We also tested eight X–linked DIR probands and their families for mutations in one of the most conserved extracellular regions ofAVPR2: in three of them, we have identified point mutations resulting in non–conservative amino acid substitutions which cosegregated with DIR in all families.

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Authors and Affiliations

  1. Department of Human Genetics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands

    Ans M.W. van den Ouweland, Jos C.F.M. Dreesen, Marian Verdijk, Nine V.A.M. Knoers & Bernard A. van Oost

  2. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands

    Leo A.H. Monnens

  3. Instituto di Genetica, 70126, Bari, Italy

    Mariano Rocchi

Authors
  1. Ans M.W. van den Ouweland
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  2. Jos C.F.M. Dreesen
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  3. Marian Verdijk
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  4. Nine V.A.M. Knoers
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  5. Leo A.H. Monnens
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  6. Mariano Rocchi
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  7. Bernard A. van Oost
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van den Ouweland, A., Dreesen, J., Verdijk, M. et al. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet 2, 99–102 (1992). https://doi.org/10.1038/ng1092-99

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