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Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.
Nephrol Dial Transplant. 2012 Oct; 27(10):3705-12.ND

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Editorial
Review

Language

eng

PubMed ID

22879391

Citation

Anesi, Laura, et al. "Two New Large Deletions of the AVPR2 Gene Causing Nephrogenic Diabetes Insipidus and a Review of Previously Published Deletions." Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, vol. 27, no. 10, 2012, pp. 3705-12.
Anesi L, de Gemmis P, Galla D, et al. Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions. Nephrol Dial Transplant. 2012;27(10):3705-12.
Anesi, L., de Gemmis, P., Galla, D., & Hladnik, U. (2012). Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 27(10), 3705-12. https://doi.org/10.1093/ndt/gfs359
Anesi L, et al. Two New Large Deletions of the AVPR2 Gene Causing Nephrogenic Diabetes Insipidus and a Review of Previously Published Deletions. Nephrol Dial Transplant. 2012;27(10):3705-12. PubMed PMID: 22879391.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions. AU - Anesi,Laura, AU - de Gemmis,Paola, AU - Galla,Daniela, AU - Hladnik,Uros, Y1 - 2012/08/09/ PY - 2012/8/11/entrez PY - 2012/8/11/pubmed PY - 2013/2/12/medline SP - 3705 EP - 12 JF - Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association JO - Nephrol. Dial. Transplant. VL - 27 IS - 10 N2 - BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1460-2385 UR - https://www.unboundmedicine.com/medline/citation/22879391/Two_new_large_deletions_of_the_AVPR2_gene_causing_nephrogenic_diabetes_insipidus_and_a_review_of_previously_published_deletions_ L2 - https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/gfs359 DB - PRIME DP - Unbound Medicine ER -