Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing-Reference-Cited by-同舟云学术

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

Published:2019-07-17 Issue:10 Volume:6 Page:
ISSN:2328-8957
Container-title:Open Forum Infectious Diseases
language:en
Short-container-title:

Author:

Rinne Sanni J¹²,Sipilä Lauri J¹²,Sulo Päivi¹²,Jouanguy Emmanuelle³⁴⁵,Béziat Vivien³⁴⁵,Abel Laurent³⁴⁵,Casanova Jean-Laurent³⁴⁵⁶⁷,Parvaneh Nima⁸⁹,Balighi Kamran¹⁰¹¹,Guttman-Yassky Emma¹²¹³,Sarid Ronit¹⁴,Aaltonen Lauri A¹²,Aavikko Mervi¹²

Affiliation:

1. Applied Tumor Genomics Research Program and, Helsinki, 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 Santé et de la Recherche Médicale (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, New York

6. Howard Hughes Medical Institute, New York, New York

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, and, 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, New York

13. Laboratory for Inflammatory Skin Diseases, Icahn School of Medicine at Mount Sinai, New York, New York

14. The Mina and Everard Goodman Faculty of Life Sciences & Advanced Materials and Nanotechnology Institute, Bar-Ilan University, Ramat-Gan, Israel

Abstract

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.

Funder

Academy of Finland’s Center of Excellence Program

Publisher

Oxford University Press (OUP)

Subject

Infectious Diseases,Oncology

Link

http://academic.oup.com/ofid/advance-article-pdf/doi/10.1093/ofid/ofz337/28941105/ofz337.pdf

Reference18 articles.

1. Classic Kaposi sarcoma: epidemiology and risk factors;Iscovich;Cancer,2000

2. Classic Kaposi’s sarcoma in Sardinia: HLA positive and negative associations;Masala;Int J Dermatol,2005

3. No significant association between HLA antigens and classic Kaposi sarcoma: molecular analysis of 49 Jewish patients;Strichman-Almashanu;J Clin Immunol,1995