Abstract
ANTIDIURETIC hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting tubule cells. Subsequent stimulation of the Gs/adenylyl cyclase system promotes insertion of water pores into the luminal membrane and thereby reabsorption of fluid. In congenital nephrogenic diabetes insipidus (CNDI)1, an X-linked recessive disorder, the kidney fails to respond to arginine vasopressin. Here we report that an affected male of a family with CNDI2,3 has a deletion in the open reading frame of the V2 receptor gene, causing a frame shift and premature termination of translation in the third intracellular loop of the receptor protein. A normal receptor gene was found in the patient's brother. Both the normal and the mutant allele were detected in his mother. A different mutation, causing a codon change in the third transmem-brane domain of the V2 receptor, was found in the open reading frame of an affected male but not in the unaffected brother belonging to another family suffering from CNDI.
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Rosenthal, W., Seibold, A., Antaramian, A. et al. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 359, 233–235 (1992). https://doi.org/10.1038/359233a0
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DOI: https://doi.org/10.1038/359233a0