Exome and regulatory element sequencing of neuromyelitis optica patients

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

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Sammanfattning

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.
Originalspråkengelska
TidskriftJournal of Neuroimmunology
Volym289
Sidor (från-till)139-142
Antal sidor4
ISSN0165-5728
DOI
StatusPublicerad - 15 dec. 2015
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3125 Öron-, näs- och halssjukdomar, ögonsjukdomar
  • 3124 Neurologi och psykiatri

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