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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 languageEnglish
Article numberofz337
JournalOpen Forum Infectious Diseases
Issue number10
StatePublished - Oct 2019

Bibliographical note

Publisher Copyright:
© 2019 The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.


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


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