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

Sanni J. Rinne; Lauri J. Sipilä; Päivi Sulo; Emmanuelle Jouanguy; Vivien Béziat; Laurent Abel; Jean Laurent Casanova; Nima Parvaneh; Kamran Balighi; Emma Guttman-Yassky; Ronit Sarid; Lauri A. Aaltonen; Mervi Aavikko

doi:10.1093/ofid/ofz337

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

Sanni J. Rinne
, Lauri J. Sipilä
, Päivi Sulo
, Emmanuelle Jouanguy
, Vivien Béziat
, Laurent Abel
, Jean Laurent Casanova
, Nima Parvaneh
, Kamran Balighi
, Emma Guttman-Yassky
, Ronit Sarid
, Lauri A. Aaltonen
, Mervi Aavikko

The Mina and Everard Goodman Faculty of Life Sciences - at Bar-Ilan University

Bar-Ilan University

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	ofz337
Journal	Open Forum Infectious Diseases
Volume	6
Issue number	10
DOIs	https://doi.org/10.1093/ofid/ofz337
State	Published - Oct 2019

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

CDHR5
RP11-259O2.1
SCUBE2
classic Kaposi sarcoma
genetic linkage
genetic predisposition
whole-genome sequencing

ASJC Scopus subject areas

Oncology
Infectious Diseases

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10.1093/ofid/ofz337

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Rinne, S. J., Sipilä, L. J., Sulo, P., Jouanguy, E., Béziat, V., Abel, L., Casanova, J. L., Parvaneh, N., Balighi, K., Guttman-Yassky, E., Sarid, R., Aaltonen, L. A., & Aavikko, M. (2019). Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing. Open Forum Infectious Diseases, 6(10), Article ofz337. https://doi.org/10.1093/ofid/ofz337

@article{b305c14ac6644bd8a5b0cc67141cca45,

title = "Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing",

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.",

keywords = "CDHR5, RP11-259O2.1, SCUBE2, classic Kaposi sarcoma, genetic linkage, genetic predisposition, whole-genome sequencing",

author = "Rinne, \{Sanni J.\} and Sipil{\"a}, \{Lauri J.\} and P{\"a}ivi Sulo and Emmanuelle Jouanguy and Vivien B{\'e}ziat and Laurent Abel and Casanova, \{Jean Laurent\} and Nima Parvaneh and Kamran Balighi and Emma Guttman-Yassky and Ronit Sarid and Aaltonen, \{Lauri A.\} and Mervi Aavikko",

note = "Publisher Copyright: {\textcopyright} 2019 The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.",

year = "2019",

month = oct,

doi = "10.1093/ofid/ofz337",

language = "English",

volume = "6",

journal = "Open Forum Infectious Diseases",

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T1 - Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

AU - Rinne, Sanni J.

AU - Sipilä, Lauri J.

AU - Sulo, Päivi

AU - Jouanguy, Emmanuelle

AU - Béziat, Vivien

AU - Abel, Laurent

AU - Casanova, Jean Laurent

AU - Parvaneh, Nima

AU - Balighi, Kamran

AU - Guttman-Yassky, Emma

AU - Sarid, Ronit

AU - Aaltonen, Lauri A.

AU - Aavikko, Mervi

PY - 2019/10

Y1 - 2019/10

N2 - 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.

AB - 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.

KW - CDHR5

KW - RP11-259O2.1

KW - SCUBE2

KW - classic Kaposi sarcoma

KW - genetic linkage

KW - genetic predisposition

KW - whole-genome sequencing

UR - https://www.scopus.com/pages/publications/85073513616

U2 - 10.1093/ofid/ofz337

DO - 10.1093/ofid/ofz337

M3 - Article

C2 - 31660331

SN - 2328-8957

VL - 6

JO - Open Forum Infectious Diseases

JF - Open Forum Infectious Diseases

IS - 10

M1 - ofz337

ER -

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

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

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