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

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http://hdl.handle.net/10138/312078

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Rinne , S J , Sipilä , L J , Sulo , P , Jouanguy , E , Beziat , V , Abel , L , Casanova , J-L , Parvaneh , N , Balighi , K , Guttman-Yassky , E , Sarid , R , Aaltonen , L A & Aavikko , M 2019 , ' Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing ' , Open Forum Infectious Diseases , vol. 6 , no. 10 , 337 . https://doi.org/10.1093/ofid/ofz337

Title: Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing
Author: Rinne, Sanni J.; Sipilä, Lauri J.; Sulo, Päivi; Jouanguy, Emmanuelle; Beziat, Vivien; Abel, Laurent; Casanova, Jean-Laurent; Parvaneh, Nima; Balighi, Kamran; Guttman-Yassky, Emma; Sarid, Ronit; Aaltonen, Lauri A.; Aavikko, Mervi
Contributor: University of Helsinki, ATG - Applied Tumor Genomics
University of Helsinki, ATG - Applied Tumor Genomics
University of Helsinki, Genome-Scale Biology (GSB) Research Program
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, Department of Medical and Clinical Genetics
Date: 2019-10
Language: eng
Number of pages: 5
Belongs to series: Open Forum Infectious Diseases
ISSN: 2328-8957
URI: http://hdl.handle.net/10138/312078
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.
Subject: classic Kaposi sarcoma
CDHR5
genetic linkage
genetic predisposition
RP11-259O2.1
SCUBE2
whole-genome sequencing
NONCODING RNAS
EPIDEMIOLOGY
EXPRESSION
VEGF
3121 General medicine, internal medicine and other clinical medicine
1183 Plant biology, microbiology, virology
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