Journal Article

Two new large deletions of the <i>AVPR2</i> gene causing nephrogenic diabetes insipidus and a review of previously published deletions

Laura Anesi, Paola de Gemmis, Daniela Galla and Uros Hladnik

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 27, issue 10, pages 3705-3712
Published in print October 2012 | ISSN: 0931-0509
Published online August 2012 | e-ISSN: 1460-2385 | DOI:
Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions

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In this paper, we report two new original deletions and present an extended review of the previously characterized AVPR2 gene deletions to better understand the underlying deletion mechanisms.


The two novel deletions were defined using polymerase chain reaction mapping and junction fragment sequencing. Bioinformatic analysis was performed on both the previously mapped deletions and the novel ones through several web tools.


In our two patients with nephrogenic diabetes insipidus, we found a 23 755 bp deletion and a 9264 bp deletion both comprising the entire AVPR2 gene and part of the ARHGAP4 gene. Through bioinformatic studies, the smallest overlapping region as well as several motifs and repeats that are known to promote rearrangements were confirmed.


Through this study, it was determined that the deletion mechanisms in the AVPR2 region do not follow the rules of non-allelic homologous recombination. Two of the 13 deletions can be attributed to the fork stalling and template switching (FoSTeS) mechanism, whereas the remaining 11 deletions could be caused either by non-homologous end joining or by the FoSTeS mechanism. Although no recurrence was found, several groupings of deletion breakpoints were identified.

Keywords: AVPR2; deletion; FoSTeS; nephrogenic diabetes insipidus; NHEJ

Journal Article.  4815 words.  Illustrated.

Subjects: Nephrology

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