Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing

Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing Publisher

Rinne SJ^{1, 2} ; Sipila LJ^{1, 2} ; Sulo P^{1, 2} ; Jouanguy E^{3, 4, 5} ; Beziat V^{3, 4, 5} ; Abel L^{3, 4, 5} ; Casanova JL^{3, 4, 5, 6, 7} ; Parvaneh N^{8, 9} ; Balighi K^{10, 11} ; Guttmanyassky E^{12, 13} ; Sarid R¹⁴ ; Aaltonen LA^{1, 2} ; Aavikko M^{1, 2}

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1. Applied Tumor Genomics Research Program, Department of Medical and Clinical Genetics, Medicum, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, Helsinki, FI-00014, Finland
2. Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland
3. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale (INSERM), UMR-1163, Paris, France
4. University Paris Descartes, Imagine Institute, Paris, France
5. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, United States
6. Howard Hughes Medical Institute, New York, NY, United States
7. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France
8. Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran, Iran
9. Research Center for Immunodeficiencies, Tehran, Iran
10. Department of Dermatology, Razi Hospital, Tehran, Iran
11. Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran
12. Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, United States
13. Laboratory for Inflammatory Skin Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, United States
14. Mina and Everard Goodman Faculty of Life Sciences, Advanced Materials and Nanotechnology Institute, Bar-Ilan University, Ramat-Gan, Israel

Source: Open Forum Infectious Diseases Published:2019

Abstract

Familial clustering of classic Kaposi sarcoma (CKS) is rare with, approximately 100 families reported to date. We studied 2 consanguineous families, 1 Iranian and 1 Israeli, with multiple cases of adult CKS and without overt underlying immunodeficiency. We performed genome-wide linkage analysis and whole-genome sequencing to discover the putative genetic cause for predisposition. A 9-kb homozygous intronic deletion in RP11-259O2.1 in the Iranian family and 2 homozygous variants, 1 in SCUBE2 and the other in CDHR5, in the Israeli family were identified as possible candidates. The presented variants provide a robust starting point for validation in independent samples. © 2019 The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.

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Shohreh Shahmahmoodi Sadeghi (1)

Sayed Mahdi Marashi (1)

Style	Citing Format
MLA	Rinne SJ, et al.. "Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing." Open Forum Infectious Diseases, vol. 6, no. 10, 2019, pp. -.
APA	Rinne SJ, Sipila LJ, Sulo P, Jouanguy E, Beziat V, Abel L, Casanova JL, Parvaneh N, Balighi K, Guttmanyassky E, Sarid R, Aaltonen LA, Aavikko M (2019). Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing. Open Forum Infectious Diseases, 6(10), -.
Chicago	Rinne SJ, Sipila LJ, Sulo P, Jouanguy E, Beziat V, Abel L, Casanova JL, et al.. "Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing." Open Forum Infectious Diseases 6, no. 10 (2019): -.
Harvard	Rinne SJ et al. (2019) 'Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing', Open Forum Infectious Diseases, 6(10), pp. -.
Vancouver	Rinne SJ, Sipila LJ, Sulo P, Jouanguy E, Beziat V, Abel L, et al.. Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing. Open Forum Infectious Diseases. 2019;6(10):-.
BibTex	@article{ author = {Rinne SJ and Sipila LJ and Sulo P and Jouanguy E and Beziat V and Abel L and Casanova JL and Parvaneh N and Balighi K and Guttmanyassky E and Sarid R and Aaltonen LA and Aavikko M}, title = {Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing}, journal = {Open Forum Infectious Diseases}, volume = {6}, number = {10}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Rinne SJ AU - Sipila LJ AU - Sulo P AU - Jouanguy E AU - Beziat V AU - Abel L AU - Casanova JL AU - Parvaneh N AU - Balighi K AU - Guttmanyassky E AU - Sarid R AU - Aaltonen LA AU - Aavikko M TI - Candidate Predisposition Variants in Kaposi Sarcoma As Detected by Whole-Genome Sequencing JO - Open Forum Infectious Diseases VL - 6 IS - 10 SP - EP - PY - 2019 ER -

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