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Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus

Item Type:Article
Title:Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus
Creators Name:Oksche, A. and Dickson, J. and Schuelein, R. and Seyberth, H.W. and Mueller, M. and Rascher, W. and Birnbaumer, M. and Rosenthal, W.
Abstract:Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations. A patient from this family was found to have a T-->A transversion at nucleotide 1095, predictive for a substitution of serine 167 (which is highly conserved among G-protein-coupled receptors), by threonine. Both the mutant and the normal allele were detected in the maternal genome. The patient's healthy brother was homozygous for the normal allele. The patient from family 2 showed a T-->C transition at nucleotide 727, predictive for a substitution of leucine 44 by proline. Analysis of the maternal genome revealed homozygosity for the normal allele. Thus a de novo mutation seems to have occurred. The nature and site of the mutation in family 2 suggest that it is responsible for the patient's disease.
Keywords:Amino Acid Sequence, Base Sequence, DNA Primers, Nephrogenic Diabetes Insipidus, Genetic Dosage Compensation, Linkage (Genetics), Molecular Sequence Data, Mutation, Pedigree, Vasopressin Receptors, X Chromosome
Source:Biochemical and Biophysical Research Communications
ISSN:0006-291X
Publisher:Academic Press (U.S.A.)
Volume:205
Number:1
Page Range:552-557
Date:30 November 1994
Official Publication:https://doi.org/10.1006/bbrc.1994.2700
PubMed:View item in PubMed

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