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XB-ART-20777
Am J Hum Genet 1994 Oct 01;554:648-52.
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Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

van Lieburg AF , Verdijk MA , Knoers VV , van Essen AJ , Proesmans W , Mallmann R , Monnens LA , van Oost BA , van Os CH , Deen PM .


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Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI.

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Species referenced: Xenopus
Genes referenced: aqp2

References [+] :
Aerts, Hydrodynamic characterization of the major intrinsic protein from the bovine lens fiber membranes. Extraction in n-octyl-beta-D-glucopyranoside and evidence for a tetrameric structure. 1990, Pubmed