期刊
JOURNAL OF NEUROIMMUNOLOGY
卷 289, 期 -, 页码 139-142出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jneuroim.2015.11.002
关键词
Devic's syndrome; Neuromyelitis optica; Next generation sequencing
资金
- Helsinki University Central Hospital Research Funds [TYH2013407]
- Academy of Finland [134211, 1134150]
- Eye Foundation
- Mary and Georg C. Ehrnrooth Foundation
- Evald and Hilda Nissi Foundation
- Eye and Tissue Bank Foundation, Finland
- Academy of Finland (AKA) [134211, 134211] Funding Source: Academy of Finland (AKA)
Neuromyelitis optica (NMO) is rare in Finland. To identify rare genetic variants contributing to NMO risk we performed whole exome, HLA and regulatory region sequencing in all ascertained cases during 2005-2013 (n = 5) in a Southern Finnish population of 1.6 million. There were no rare variant shared by all patients. Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. Another PDZD2 variant was found in a third patient. In the non-coding sequence two predictably functional rare variants were shared by two patients. Our results do not support a homogeneous genetic etiology of NMO in Finland. (C) 2015 Elsevier B.V. All rights reserved.
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