Am J Med Genet. 1991 Jan;38(1):90-4.

Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus.

Langley JM, Balfe JW, Selander T, Ray PN, Clarke JT.

Source

Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

Abstract

We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [1988] to be tightly linked to the NDI locus on the X-chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.

PMID:: 1672792; [PubMed - indexed for MEDLINE]

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Cited by 6 PubMed Central articles

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. [J Clin Invest. 1998]
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
Tamarappoo BK, Verkman AS. J Clin Invest. 1998 May 15; 101(10):2257-67.
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. [Proc Natl Acad Sci U S A. 1994]
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Friedman E, Bale AE, Carson E, Boson WL, Nordenskjöld M, Ritzén M, Ferreira PC, Jammal A, De Marco L. Proc Natl Acad Sci U S A. 1994 Aug 30; 91(18):8457-61.
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. [Am J Hum Genet. 1994]
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. Am J Hum Genet. 1994 Aug; 55(2):266-77.

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