Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing. (17th July 2019)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Open forum infectious diseases. Volume 6:Number 10(2019)
• Publication Date: 2019-07-17
• Subjects: classic Kaposi sarcoma -- CDHR5 -- genetic linkage -- genetic predisposition -- RP11-259O2.1 -- SCUBE2 -- whole-genome sequencing; Communicable diseases -- Periodicals; Medical microbiology -- Periodicals; Infection -- Periodicals; 616.9
• DOI: 10.1093/ofid/ofz337
• Languages: English
• ISSNs: 2328-8957

Abstract

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. Abstract : In this study, genome-wide methods were employed to identify genetic basis of classic Kaposi sarcoma in Iranian and Israeli family. Susceptibility candidates, including a homozygous deletion in RP11-259O2.1 and homozygous single-nucleotide variants in SCUBE2 and in CDHR5, were identified.