Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene

Journal Article · Sat Oct 01 00:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:35496

Lieburg, A.F. van; Verdijk, M A.J.; Knoers, V V.A.M.; Monnens, L A.H.; Oost, B.A. van; Os, C.H. van; Deen, P M.T. ^[1]; Essen, A.J. van ^[2]; Proesmans, W ^[3]; Mallmann, R ^[4]

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1. Univ. of Nijmegen (Netherlands)
2. Univ. of Groningen (Netherlands)
3. Univ. of Leuven (Belgium)
4. Univ. of Bonn (Germany)

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 consanquineous 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. 32 refs., 4 figs.

• OSTI ID: 35496
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMP
ENDOCRINE DISEASES
GENE MUTATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
HUMAN POPULATIONS
HUMAN X CHROMOSOME
KIDNEYS
OOCYTES