Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.
Rinne S,Sipilä L,Sulo P,Jouanguy E,Béziat V,Abel L,Casanova J,Parvaneh N,Balighi K,Guttman-Yassky E,Sarid R,Aaltonen L,Aavikko M
Source :
Open Forum Infect Dis
2019 Jul 17
Pmid / DOI:
31660331
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 in the Iranian family and 2 homozygous variants, 1 in and the other in in the Israeli family were identified as possible candidates. The presented variants provide a robust starting point for validation in independent samples.KEYWORDSCDHR5, RP11-259O2.1, SCUBE2, classic Kaposi sarcoma, genetic linkage, genetic predisposition, whole-genome sequencing© The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America.