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Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
Metabolism. 2012 Jul; 61(7):922-30.M

Abstract

X-linked nephrogenic diabetes insipidus (NDI) is a rare disease characterized by a malfunctioning renal response to the antidiuretic hormone arginine vasopressin (AVP) due to mutations in the AVPR2 gene. A limited number of mutations in the AVPR2 gene resulting in partial phenotype have been described so far. In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial NDI. In the present study, a 14 year old male and his 73 year old maternal grandfather were diagnosed with partial NDI based on the clinical phenotype, the water deprivation test and the inadequate response to 1-desamino-8-d-arginine vasopressin (DDAVP) administration. Sequencing analysis of the AVPR2 gene revealed the novel missense mutation p.N317S (g.1417A > G) in both patients. This mutation was re-created by site directed mutagenesis in an AVPR2 cDNA expression vector and was functionally characterized, in terms of arginine vasopressin (AVP) and DDAVP response. AVPR2 activity of the p.N317S mutant receptor after the AVP and DDAVP administration, as assessed by cAMP production was reduced and impaired when compared to cells that expressed the wild type AVPR2 gene. In conclusion, the affected members of this family have X-linked NDI with partial resistance to AVP, due to a missense mutation in the AVPR2 gene.

Authors+Show Affiliations

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.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
Review

Language

eng

PubMed ID

22386940

Citation

Neocleous, Vassos, et al. "Identification and Characterization of a Novel X-linked AVPR2 Mutation Causing Partial Nephrogenic Diabetes Insipidus: a Case Report and Review of the Literature." Metabolism: Clinical and Experimental, vol. 61, no. 7, 2012, pp. 922-30.
Neocleous V, Skordis N, Shammas C, et al. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. Metab Clin Exp. 2012;61(7):922-30.
Neocleous, V., Skordis, N., Shammas, C., Efstathiou, E., Mastroyiannopoulos, N. P., & Phylactou, L. A. (2012). Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. Metabolism: Clinical and Experimental, 61(7), 922-30. https://doi.org/10.1016/j.metabol.2012.01.005
Neocleous V, et al. Identification and Characterization of a Novel X-linked AVPR2 Mutation Causing Partial Nephrogenic Diabetes Insipidus: a Case Report and Review of the Literature. Metab Clin Exp. 2012;61(7):922-30. PubMed PMID: 22386940.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. AU - Neocleous,Vassos, AU - Skordis,Nicos, AU - Shammas,Christos, AU - Efstathiou,Elisavet, AU - Mastroyiannopoulos,Nikolaos P, AU - Phylactou,Leonidas A, Y1 - 2012/03/03/ PY - 2011/09/19/received PY - 2012/01/04/revised PY - 2012/01/05/accepted PY - 2012/3/6/entrez PY - 2012/3/6/pubmed PY - 2012/8/24/medline SP - 922 EP - 30 JF - Metabolism: clinical and experimental JO - Metab. Clin. Exp. VL - 61 IS - 7 N2 - X-linked nephrogenic diabetes insipidus (NDI) is a rare disease characterized by a malfunctioning renal response to the antidiuretic hormone arginine vasopressin (AVP) due to mutations in the AVPR2 gene. A limited number of mutations in the AVPR2 gene resulting in partial phenotype have been described so far. In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial NDI. In the present study, a 14 year old male and his 73 year old maternal grandfather were diagnosed with partial NDI based on the clinical phenotype, the water deprivation test and the inadequate response to 1-desamino-8-d-arginine vasopressin (DDAVP) administration. Sequencing analysis of the AVPR2 gene revealed the novel missense mutation p.N317S (g.1417A > G) in both patients. This mutation was re-created by site directed mutagenesis in an AVPR2 cDNA expression vector and was functionally characterized, in terms of arginine vasopressin (AVP) and DDAVP response. AVPR2 activity of the p.N317S mutant receptor after the AVP and DDAVP administration, as assessed by cAMP production was reduced and impaired when compared to cells that expressed the wild type AVPR2 gene. In conclusion, the affected members of this family have X-linked NDI with partial resistance to AVP, due to a missense mutation in the AVPR2 gene. SN - 1532-8600 UR - https://www.unboundmedicine.com/medline/citation/22386940/Identification_and_characterization_of_a_novel_X_linked_AVPR2_mutation_causing_partial_nephrogenic_diabetes_insipidus:_a_case_report_and_review_of_the_literature_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0026-0495(12)00033-9 DB - PRIME DP - Unbound Medicine ER -