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
Applied Tumor Genomics Research Program and, Helsinki, Finland.
Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Open Forum Infect Dis. 2019 Jul 17;6(10):ofz337. doi: 10.1093/ofid/ofz337. eCollection 2019 Oct.
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 in the Iranian family and 2 homozygous variants, 1 in and the other in in the Israeli family were identified as possible candidates. The presented variants provide a robust starting point for validation in independent samples.
经典型卡波西肉瘤（CKS）的家族聚集性很罕见，迄今为止报道的家族约有100个。我们研究了2个近亲家庭，1个伊朗家庭和1个以色列家庭，这些家庭中有多例成年CKS患者且无明显的潜在免疫缺陷。我们进行了全基因组连锁分析和全基因组测序，以发现易患性的推定遗传原因。在伊朗家庭中发现一个9kb的纯合内含子缺失，在以色列家庭中发现2个纯合变异，一个在 ，另一个在 ，这些被确定为可能的候选基因。所呈现的变异为在独立样本中进行验证提供了一个有力的起点。
