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

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2 Scopus citations

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 - 30 Sep 2019

Keywords

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

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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

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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 = "Funding Information: Financial support. This study was supported by grant from the Academy of Finland{\textquoteright}s Center of Excellence Program 2012–2017, #250345, and 2018–2025, #312041. Publisher Copyright: {\textcopyright} 2019 The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.",

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doi = "10.1093/ofid/ofz337",

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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

N1 - Funding Information: Financial support. This study was supported by grant from the Academy of Finland’s Center of Excellence Program 2012–2017, #250345, and 2018–2025, #312041. Publisher Copyright: © 2019 The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.

PY - 2019/9/30

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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.

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

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