AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

Journal of Cellular Physiology - Tập 217 Số 3 - Trang 605-617 - 2008
Elias K. Spanakis1,2, Edrice Milord3, Claudia Gragnoli1,4,2,5
1Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology, M. S. Hershey Medical Center, Hershey, Pennsylvania
2Penn State University College of Medicine, Hershey, Pennsylvania
3Laboratoire d'Enzymologie et Biochimie Structurales (LEBS), CNRS de Gif-Sur-Yvette, France
4Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, Italy
5Sbarro Institute for Cancer Research & Molecular Medicine, Center for Biotechnology and Department of Biology, Temple University's College of Science & Technology, Philadelphia, Pennsylvania

Tóm tắt

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. © 2008 Wiley‐Liss, Inc.

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Journal of Cellular Physiology

Tập 217 Số 3

605-617

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