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

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...

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Autores principales: Rinne, Sanni J, Sipilä, Lauri J, Sulo, Päivi, Jouanguy, Emmanuelle, Béziat, Vivien, Abel, Laurent, Casanova, Jean-Laurent, Parvaneh, Nima, Balighi, Kamran, Guttman-Yassky, Emma, Sarid, Ronit, Aaltonen, Lauri A, Aavikko, Mervi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778425/
https://www.ncbi.nlm.nih.gov/pubmed/31660331
http://dx.doi.org/10.1093/ofid/ofz337
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author Rinne, Sanni J
Sipilä, Lauri J
Sulo, Päivi
Jouanguy, Emmanuelle
Béziat, Vivien
Abel, Laurent
Casanova, Jean-Laurent
Parvaneh, Nima
Balighi, Kamran
Guttman-Yassky, Emma
Sarid, Ronit
Aaltonen, Lauri A
Aavikko, Mervi
author_facet Rinne, Sanni J
Sipilä, Lauri J
Sulo, Päivi
Jouanguy, Emmanuelle
Béziat, Vivien
Abel, Laurent
Casanova, Jean-Laurent
Parvaneh, Nima
Balighi, Kamran
Guttman-Yassky, Emma
Sarid, Ronit
Aaltonen, Lauri A
Aavikko, Mervi
author_sort Rinne, Sanni J
collection PubMed
description 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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spelling pubmed-67784252019-10-09 Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing Rinne, Sanni J Sipilä, Lauri J Sulo, Päivi Jouanguy, Emmanuelle Béziat, Vivien Abel, Laurent Casanova, Jean-Laurent Parvaneh, Nima Balighi, Kamran Guttman-Yassky, Emma Sarid, Ronit Aaltonen, Lauri A Aavikko, Mervi Open Forum Infect Dis Brief Report 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. Oxford University Press 2019-07-17 /pmc/articles/PMC6778425/ /pubmed/31660331 http://dx.doi.org/10.1093/ofid/ofz337 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Brief Report
Rinne, Sanni J
Sipilä, Lauri J
Sulo, Päivi
Jouanguy, Emmanuelle
Béziat, Vivien
Abel, Laurent
Casanova, Jean-Laurent
Parvaneh, Nima
Balighi, Kamran
Guttman-Yassky, Emma
Sarid, Ronit
Aaltonen, Lauri A
Aavikko, Mervi
Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title_full Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title_fullStr Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title_full_unstemmed Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title_short Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
title_sort candidate predisposition variants in kaposi sarcoma as detected by whole-genome sequencing
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778425/
https://www.ncbi.nlm.nih.gov/pubmed/31660331
http://dx.doi.org/10.1093/ofid/ofz337
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