Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.
Rinne SJ, Sipilä LJ, Sulo P, Jouanguy E, Béziat V, Abel L, Casanova JL, Parvaneh N, Balighi K, Guttman-Yassky E, Sarid R, Aaltonen LA, Aavikko M.
Source : Open Forum Infect Dis
2019 nov 1
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 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.