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Article Open Access

Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis

  • Authors:
    • Hans M. Albertsen
    • Charoula Matalliotaki
    • Michail Matalliotakis
    • Maria I. Zervou
    • Ioannis Matalliotakis
    • Demetrios A. Spandidos
    • Rakesh Chettier
    • Kenneth Ward
    • George N. Goulielmos
  • View Affiliations / Copyright

    Affiliations: Juneau Biosciences, LLC, Salt Lake City, UT, USA, 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki 541 24, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, University of Crete, Heraklion 710 03, Crete, Greece, Department of Obstetrics and Gynecology, Venizeleio General Hospital of Heraklion, Heraklion 714 09, Greece, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 710 03, Crete, Greece
    Copyright: © Albertsen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1716-1720
    |
    Published online on: January 3, 2019
       https://doi.org/10.3892/mmr.2019.9818
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Abstract

Endometriosis is an enigmatic condition with an unknown etiology and a poorly understood pathogenesis. It is considered to appear from the interplay of many genetic and environmental factors, affecting up to 10% of women and represents a major cause of pain and infertility. The familial association of endometriosis, as demonstrated through monozygotic twin and family studies suggests a genetic contribution to the disease, with further case‑control and genome‑wide association studies (GWAS) detecting various endometriosis risk factors. In a recent study, we described a unique, three‑generation family of Cretan origin (Greece) with 7 females with surgically confirmed endometriosis (grandmother, 3 daughters and 3 granddaughters). All the affected members of this family displayed a variety of clinical manifestations and complications. In the present study, to further analyze the genetic variants conferring the risk of developing endometriosis, whole exome sequencing (WES) was performed, using the AmpliSeq technology on the Ion Proton platform. An initial analysis of 64 variants that were detected across the 14 genes previously confirmed to be associated with endometriosis, did not identify any deleterious exonic variants in these genes. However, further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus, spanning 7 informative sequence variants across at least 14 kb. The second deletion, located in USP17L2, spans 3 informative variants across at least 2 kb. On the whole, the findings of the presents study implicate 2 additional genes in the pathogenesis of endometriosis, apart from those already identified by GWAS.
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Copy and paste a formatted citation
Spandidos Publications style
Albertsen HM, Matalliotaki C, Matalliotakis M, Zervou MI, Matalliotakis I, Spandidos DA, Chettier R, Ward K and Goulielmos GN: Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis. Mol Med Rep 19: 1716-1720, 2019.
APA
Albertsen, H.M., Matalliotaki, C., Matalliotakis, M., Zervou, M.I., Matalliotakis, I., Spandidos, D.A. ... Goulielmos, G.N. (2019). Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis. Molecular Medicine Reports, 19, 1716-1720. https://doi.org/10.3892/mmr.2019.9818
MLA
Albertsen, H. M., Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Matalliotakis, I., Spandidos, D. A., Chettier, R., Ward, K., Goulielmos, G. N."Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis". Molecular Medicine Reports 19.3 (2019): 1716-1720.
Chicago
Albertsen, H. M., Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Matalliotakis, I., Spandidos, D. A., Chettier, R., Ward, K., Goulielmos, G. N."Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis". Molecular Medicine Reports 19, no. 3 (2019): 1716-1720. https://doi.org/10.3892/mmr.2019.9818
Copy and paste a formatted citation
x
Spandidos Publications style
Albertsen HM, Matalliotaki C, Matalliotakis M, Zervou MI, Matalliotakis I, Spandidos DA, Chettier R, Ward K and Goulielmos GN: Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis. Mol Med Rep 19: 1716-1720, 2019.
APA
Albertsen, H.M., Matalliotaki, C., Matalliotakis, M., Zervou, M.I., Matalliotakis, I., Spandidos, D.A. ... Goulielmos, G.N. (2019). Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis. Molecular Medicine Reports, 19, 1716-1720. https://doi.org/10.3892/mmr.2019.9818
MLA
Albertsen, H. M., Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Matalliotakis, I., Spandidos, D. A., Chettier, R., Ward, K., Goulielmos, G. N."Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis". Molecular Medicine Reports 19.3 (2019): 1716-1720.
Chicago
Albertsen, H. M., Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Matalliotakis, I., Spandidos, D. A., Chettier, R., Ward, K., Goulielmos, G. N."Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis". Molecular Medicine Reports 19, no. 3 (2019): 1716-1720. https://doi.org/10.3892/mmr.2019.9818
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