Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
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ABSTRACT:
SUBMITTER: van Lieburg AF
PROVIDER: S-EPMC1918308 | biostudies-other | 1994 Oct
REPOSITORIES: biostudies-other
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Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
van Lieburg A F AF Verdijk M A MA Knoers V V VV van Essen A J AJ Proesmans W W Mallmann R R Monnens L A LA van Oost B A BA van Os C H CH Deen P M PM
American journal of human genetics 19941001 4
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. Expr ...[more]
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