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Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
Biochem Biophys Res Commun. 1993 Dec 15; 197(2):1000-10.BB

Abstract

Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder exhibiting renal resistance to the antidiuretic action of arginine vasopressin (AVP). Recent elucidation of the vasopressin V2 (renal type) receptor gene structure has enabled us to test the hypothesis that the genetic defect in the V2 receptor is the likely molecular basis of NDI. By using the polymerase chain reaction (PCR)-direct sequencing, we identified novel V2 receptor gene mutations in two unrelated Japanese kindreds with NDI. In the male patients of kindred A, a single codon deletion in one of two consecutive GTC triplets (nucleotide 832 to 837) was detected. This base change resulted in the loss of a valine residue in the 6th transmembrane domain. In the affected males of kindred B, a G to C substitution was found at nucleotide 428, altering codon 143 from arginine (CGT) to proline (CCT) in the second cytoplasmic domain. PCR-single strand conformation polymorphism (SSCP) analysis of family members demonstrated that the mutations cosegregated with clinically affected individuals and were absent in normal subjects. Our results suggest that different V2 receptor defects could be responsible for AVP resistance in individual NDI kindreds.

Authors+Show Affiliations

Second Department of Internal Medicine, Kansai Medical University, Osaka, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8267567

Citation

Tsukaguchi, H, et al. "Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds With Nephrogenic Diabetes Insipidus." Biochemical and Biophysical Research Communications, vol. 197, no. 2, 1993, pp. 1000-10.
Tsukaguchi H, Matsubara H, Aritaki S, et al. Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochem Biophys Res Commun. 1993;197(2):1000-10.
Tsukaguchi, H., Matsubara, H., Aritaki, S., Kimura, T., Abe, S., & Inada, M. (1993). Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochemical and Biophysical Research Communications, 197(2), 1000-10.
Tsukaguchi H, et al. Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds With Nephrogenic Diabetes Insipidus. Biochem Biophys Res Commun. 1993 Dec 15;197(2):1000-10. PubMed PMID: 8267567.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. AU - Tsukaguchi,H, AU - Matsubara,H, AU - Aritaki,S, AU - Kimura,T, AU - Abe,S, AU - Inada,M, PY - 1993/12/15/pubmed PY - 1993/12/15/medline PY - 1993/12/15/entrez SP - 1000 EP - 10 JF - Biochemical and biophysical research communications JO - Biochem. Biophys. Res. Commun. VL - 197 IS - 2 N2 - Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder exhibiting renal resistance to the antidiuretic action of arginine vasopressin (AVP). Recent elucidation of the vasopressin V2 (renal type) receptor gene structure has enabled us to test the hypothesis that the genetic defect in the V2 receptor is the likely molecular basis of NDI. By using the polymerase chain reaction (PCR)-direct sequencing, we identified novel V2 receptor gene mutations in two unrelated Japanese kindreds with NDI. In the male patients of kindred A, a single codon deletion in one of two consecutive GTC triplets (nucleotide 832 to 837) was detected. This base change resulted in the loss of a valine residue in the 6th transmembrane domain. In the affected males of kindred B, a G to C substitution was found at nucleotide 428, altering codon 143 from arginine (CGT) to proline (CCT) in the second cytoplasmic domain. PCR-single strand conformation polymorphism (SSCP) analysis of family members demonstrated that the mutations cosegregated with clinically affected individuals and were absent in normal subjects. Our results suggest that different V2 receptor defects could be responsible for AVP resistance in individual NDI kindreds. SN - 0006-291X UR - https://www.unboundmedicine.com/medline/citation/8267567/Two_novel_mutations_in_the_vasopressin_V2_receptor_gene_in_unrelated_Japanese_kindreds_with_nephrogenic_diabetes_insipidus_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0006-291X(83)72578-7 DB - PRIME DP - Unbound Medicine ER -