Referenced in: none

Automatically associated channels: Kir2.3

Title: Exome and regulatory element sequencing of neuromyelitis optica patients.

Authors: Mika Siuko, Miko Valori, Tero Kivelä, Kirsi Setälä, Andreanne Morin, Tony Kwan, Tomi Pastinen, Pentti Tienari

Journal, date & volume: J. Neuroimmunol., 2015 Dec 15 , 289, 139-42

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26616883

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.