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Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Journal article
Authors S. Joshi
Per Brandström
N. Gregersen
S. Rittig
J. H. Christensen
Published in Case Reports in Nephrology and Dialysis
Volume 7
Issue 3
Pages 130-137
ISSN 2296-9705
Publication year 2017
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 130-137
Language en
Links doi.org/10.1159/000480009
Keywords AVPR2, Congenital nephrogenic diabetes insipidus, De novo disease-causing variant, Vasopressin V2, v-2 vasopressin receptor, avpr2 gene, mutation
Subject categories Diabetology, Kidney diseases

Abstract

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVPR2) gene is possible in at-risk newborns with a known family history of X-linked CNDI. In this study, a Swedish male with no family history was diagnosed with CNDI at 6 months of age during an episode of gastroenteritis. We analyzed the coding regions of AVPR2 by PCR and direct DNA sequencing and identified an 80-bp duplication in exon 2 (GenBank NM_000054.4; c.800_879dup) in the proband. This variant leads to a frameshift and introduces a stop codon four codons downstream (p.Ala294Profs*4). The variant gene product either succumbs to nonsense-mediated decay or is translated to a truncated nonfunctional vasopressin V2 receptor. This variant was absent in four unaffected family members, including his parents, as well as in 100 alleles from healthy controls, and is thus considered a novel de novo disease-causing variant. Identification of the disease-causing variant facilitated precise diagnosis of CNDI in the proband. Furthermore, it allows future genetic counseling in the family. This case study highlights the importance of genetic testing in sporadic infant cases with CNDI that can occur due to de novo variants in AVPR2 or several generations of female transmission of the disease-causing variant. (C) 2017 The Author(s) Published by S. Karger AG, Basel

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