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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778425/
https://www.ncbi.nlm.nih.gov/pubmed/31660331
http://dx.doi.org/10.1093/ofid/ofz337
Descripción
Sumario: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.

Ejemplares similares