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AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
J Cell Physiol. 2008 Dec; 217(3):605-17.JC

Abstract

Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a Medline search and collected detailed information regarding all AVPR2 mutations and variants. We performed a frequency comparison between mutated and wild-type amino acids and codons. We predicted the mutation effect or reported it based on published in vitro studies. We also reported the ethnicity of each mutation/variant carrier. In summary, we identified 211 AVPR2 mutations which cause NDI in 326 families and 21 variants which do not cause NDI in 71 NDI families. We described 15 different types of mutations including missense, frameshift, inframe deletion, deletion, insertion, nonsense, duplication, splicing and combined mutations. The missense mutations represent the 55.83% of all the NDI published families. Arginine and tyrosine are significantly (P = 4.07E-08 and P = 3.27E-04, respectively) the AVPR2 most commonly mutated amino acids. Alanine and glutamate are significantly (P = 0.009 and P = 0.019, respectively) the least mutated AVPR2 amino acids. The spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense. The AVPR2 mutations are spread world-wide. Our study may serve as an updated review, comprehensive of all AVPR2 variants and specific gene locations. J. Cell. Physiol. 217: 605-617, 2008. (c) 2008 Wiley-Liss, Inc.

Authors+Show Affiliations

Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology, M. S. Hershey Medical Center, Hershey, Pennsylvania 17033, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

18726898

Citation

Spanakis, Elias, et al. "AVPR2 Variants and Mutations in Nephrogenic Diabetes Insipidus: Review and Missense Mutation Significance." Journal of Cellular Physiology, vol. 217, no. 3, 2008, pp. 605-17.
Spanakis E, Milord E, Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol. 2008;217(3):605-17.
Spanakis, E., Milord, E., & Gragnoli, C. (2008). AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. Journal of Cellular Physiology, 217(3), 605-17. https://doi.org/10.1002/jcp.21552
Spanakis E, Milord E, Gragnoli C. AVPR2 Variants and Mutations in Nephrogenic Diabetes Insipidus: Review and Missense Mutation Significance. J Cell Physiol. 2008;217(3):605-17. PubMed PMID: 18726898.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. AU - Spanakis,Elias, AU - Milord,Edrice, AU - Gragnoli,Claudia, PY - 2008/8/30/pubmed PY - 2008/10/17/medline PY - 2008/8/30/entrez SP - 605 EP - 17 JF - Journal of cellular physiology JO - J. Cell. Physiol. VL - 217 IS - 3 N2 - Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a Medline search and collected detailed information regarding all AVPR2 mutations and variants. We performed a frequency comparison between mutated and wild-type amino acids and codons. We predicted the mutation effect or reported it based on published in vitro studies. We also reported the ethnicity of each mutation/variant carrier. In summary, we identified 211 AVPR2 mutations which cause NDI in 326 families and 21 variants which do not cause NDI in 71 NDI families. We described 15 different types of mutations including missense, frameshift, inframe deletion, deletion, insertion, nonsense, duplication, splicing and combined mutations. The missense mutations represent the 55.83% of all the NDI published families. Arginine and tyrosine are significantly (P = 4.07E-08 and P = 3.27E-04, respectively) the AVPR2 most commonly mutated amino acids. Alanine and glutamate are significantly (P = 0.009 and P = 0.019, respectively) the least mutated AVPR2 amino acids. The spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense. The AVPR2 mutations are spread world-wide. Our study may serve as an updated review, comprehensive of all AVPR2 variants and specific gene locations. J. Cell. Physiol. 217: 605-617, 2008. (c) 2008 Wiley-Liss, Inc. SN - 1097-4652 UR - https://www.unboundmedicine.com/medline/citation/18726898/AVPR2_variants_and_mutations_in_nephrogenic_diabetes_insipidus:_review_and_missense_mutation_significance_ L2 - https://doi.org/10.1002/jcp.21552 DB - PRIME DP - Unbound Medicine ER -