Ontology highlight
ABSTRACT:
SUBMITTER: Rinne SJ
PROVIDER: S-EPMC6778425 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Open forum infectious diseases 20190717 10
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 <i>RP11-259O2.1</i> in the Iranian family and 2 homozygous variants, 1 in <i>S ...[more]