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



Rinne SJ^{1, 2} ; Sipila LJ^{1, 2} ; Sulo P^{1, 2} ; Jouanguy E^{3, 4, 5} ; Beziat V^{3, 4, 5} ; Abel L^{3, 4, 5} ; Casanova JL^{3, 4, 5, 6, 7} ; Parvaneh N^{8, 9} ; Balighi K^{10, 11} ; Guttmanyassky E^{12, 13} ; Sarid R¹⁴ ; Aaltonen LA^{1, 2} ; Aavikko M^{1, 2}
Source: Open Forum Infectious Diseases Published:2019

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