Exome and regulatory element sequencing of neuromyelitis optica patients

Abstract 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 vari...

Full description

Saved in:
Bibliographic Details
Published in:Journal of neuroimmunology 2015-12, Vol.289, p.139-142
Main Authors: Siuko, Mika, Valori, Miko, Kivelä, Tero, Setälä, Kirsi, Morin, Andreanne, Kwan, Tony, Pastinen, Tomi, Tienari, Pentti
Format: Article
Language:English
Subjects:
Adult
Allergy and Immunology
Aquaporin 4 - cerebrospinal fluid
Devic's syndrome
Exome - genetics
Female
Finland
Histocompatibility Antigens - genetics
Humans
Male
Middle Aged
Mutation, Missense - genetics
Neurology
Neuromyelitis optica
Neuromyelitis Optica - cerebrospinal fluid
Neuromyelitis Optica - genetics
Next generation sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract 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.
ISSN:0165-5728
1872-8421
DOI:10.1016/j.jneuroim.2015.11.002