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

被引：4

作者：

Rinne, Sanni J. ^{[1
,2
]}

Sipila, Lauri J. ^{[1
,2
]}

Sulo, Paivi ^{[1
,2
]}

Jouanguy, Emmanuelle ^{[3
,4
,5
]}

Beziat, Vivien ^{[3
,4
,5
]}

Abel, Laurent ^{[3
,4
,5
]}

Casanova, Jean-Laurent ^{[3
,4
,5
,6
,7
]}

Parvaneh, Nima ^{[8
,9
]}

Balighi, Kamran ^{[10
,11
]}

Guttman-Yassky, Emma ^{[12
,13
]}

Sarid, Ronit ^{[14
,15
]}

Aaltonen, Lauri A. ^{[1
,2
]}

Aavikko, Mervi ^{[1
,2
]}

机构：

[1] Univ Helsinki, Appl Tumor Genom Res Program, Helsinki, Finland

[2] Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland

[3] INSERM, Necker Branch, Lab Human Genet Infect Dis, UMR 1163, Paris, France

[4] Univ Paris 05, Imagine Inst, Paris, France

[5] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

[6] Howard Hughes Med Inst, New York, NY USA

[7] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France

[8] Razi Hosp, Div Allergy & Clin Immunol, Dept Pediat, Tehran, Iran

[9] Razi Hosp, Res Ctr Immunodeficiencies, Tehran, Iran

[10] Razi Hosp, Dept Dermatol, Tehran, Iran

[11] Univ Tehran Med Sci, Autoimmune Bullous Dis Res Ctr, Tehran, Iran

[12] Icahn Sch Med Mt Sinai, Dept Dermatol, New York, NY 10029 USA

[13] Icahn Sch Med Mt Sinai, Lab Inflammatory Skin Dis, New York, NY 10029 USA

[14] Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, Ramat Gan, Israel

[15] Bar Ilan Univ, Adv Mat & Nanotechnol Inst, Ramat Gan, Israel

来源：

OPEN FORUM INFECTIOUS DISEASES | 2019年 / 6卷 / 10期

基金：

芬兰科学院;

关键词：

classic Kaposi sarcoma; CDHR5; genetic linkage; genetic predisposition; RP11-259O2.1; SCUBE2; whole-genome sequencing; NONCODING RNAS; EPIDEMIOLOGY; EXPRESSION; SCUBE2; VEGF;

D O I：

10.1093/ofid/ofz337

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页数：5

共 50 条

[1] Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma
Aavikko, Mervi
Kaasinen, Eevi
Nieminen, Janne K.
Byun, Minji
Donner, Iikki
Mancuso, Roberta
Ferrante, Pasquale
Clerici, Mario
Brambilla, Lucia
Tourlaki, Athanasia
Sarid, Ronit
Guttman-Yassky, Emma
Taipale, Minna
Morgunova, Ekaterina
Pekkonen, Pirita
Ojala, Paivi M.
Pukkala, Eero
Casanova, Jean-Laurent
Vaarala, Outi
Vahteristo, Pia
Aaltonen, Lauri A.
[J]. JOURNAL OF INFECTIOUS DISEASES, 2015, 211 (11): : 1842 - 1851
[2] SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Qiliang Ding
Cherith Somerville
Roozbeh Manshaei
Brett Trost
Miriam S. Reuter
Kelsey Kalbfleisch
Kaitlin Stanley
John B. A. Okello
S. Mohsen Hosseini
Eriskay Liston
Meredith Curtis
Mehdi Zarrei
Edward J. Higginbotham
Ada J. S. Chan
Worrawat Engchuan
Bhooma Thiruvahindrapuram
Stephen W. Scherer
Raymond H. Kim
Rebekah K. Jobling
[J]. Human Genetics, 2023, 142 : 201 - 216
[3] SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Ding, Qiliang
Somerville, Cherith
Manshaei, Roozbeh
Trost, Brett
Reuter, Miriam S.
Kalbfleisch, Kelsey
Stanley, Kaitlin
Okello, John B. A.
Hosseini, S. Mohsen
Liston, Eriskay
Curtis, Meredith
Zarrei, Mehdi
Higginbotham, Edward J.
Chan, Ada J. S.
Engchuan, Worrawat
Thiruvahindrapuram, Bhooma
Scherer, Stephen W.
Kim, Raymond H.
Jobling, Rebekah K.
[J]. HUMAN GENETICS, 2023, 142 (02) : 201 - 216
[4] Whole-Genome Sequencing Analysis of Sapovirus Detected in South Korea
Choi, Hye Lim
Suh, Chang-Il
Park, Seung-Won
Jin, Ji-Young
Cho, Han-Gil
Paik, Soon-Young
[J]. PLOS ONE, 2015, 10 (07):
[5] Whole-genome sequencing
Morris, Huw R.
Houlden, Henry
Polke, James
[J]. PRACTICAL NEUROLOGY, 2021, 21 (04) : 322 - +
[6] Whole-Genome Sequencing of Kaposi's Sarcoma-Associated Herpesvirus from Zambian Kaposi's Sarcoma Biopsy Specimens Reveals Unique Viral Diversity
Olp, Landon N.
Jeanniard, Adrien
Marimo, Clemence
West, John T.
Wood, Charles
[J]. JOURNAL OF VIROLOGY, 2015, 89 (24) : 12299 - 12308
[7] Whole-genome sequencing analysis of structural variants in oesophageal adenocarcinoma
Contino, Gianmarco
Secrier, Maria
Edward, Paul A. W.
Fitzgerald, Rebecca
[J]. LANCET, 2017, 389 : 34 - 34
[8] Whole-genome sequencing analysis of human bocavirus detected in South Korea
Kang, L. H.
Won, Y. J.
Lee, A. R.
Lee, S. G.
Cho, H. G.
Park, Y. J.
Han, J. I.
Paik, S. Y.
[J]. EPIDEMIOLOGY AND INFECTION, 2018, 146 (07): : 839 - 847
[9] Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia
Malcher, Agnieszka
Stokowy, Tomasz
Berman, Andrea
Olszewska, Marta
Jedrzejczak, Piotr
Sielski, Dawid
Nowakowski, Adam
Rozwadowska, Natalia
Yatsenko, Alexander N.
Kurpisz, Maciej K.
[J]. ANDROLOGY, 2022, 10 (08) : 1605 - 1624
[10] Whole-genome sequencing to improve sarcoma diagnosis and patient care.
Schipper, Luuk J.
Monkhorst, Kim
Samsom, Kris
Snaebjornsson, Petur
Van Boven, Hester
Roepman, Paul
Van der Kolk, Lizet
Bosch, Linda J. W.
van Houdt, Winan J.
Van der Graaf, Winette T. A.
Meijer, Gerrit A.
Voest, Emile E.
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (15)

← 1 2 3 4 5 →