title: 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 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.
authors.affiliation: Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland. Electronic address: mika.siuko@helsinki.fi.
authors.forename: Mika
authors.initials: M
authors.lastname: Siuko
authors.affiliation: Molecular Neurology Programme, Research Program Unit, Biomedicum, University of Helsinki, Helsinki, Finland.
authors.forename: Miko
authors.initials: M
authors.lastname: Valori
authors.affiliation: Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland; University of Helsinki, Helsinki, Finland.
authors.forename: Tero
authors.initials: T
authors.lastname: Kivelä
authors.affiliation: Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Setälä
authors.affiliation: Genome Quebec Innovation Center, Canada.
authors.forename: Andreanne
authors.initials: A
authors.lastname: Morin
authors.affiliation: McGill University, Canada; Genome Quebec Innovation Center, Canada.
authors.forename: Tony
authors.initials: T
authors.lastname: Kwan
authors.affiliation: McGill University, Canada; Genome Quebec Innovation Center, Canada.
authors.forename: Tomi
authors.initials: T
authors.lastname: Pastinen
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland; Molecular Neurology Programme, Research Program Unit, Biomedicum, University of Helsinki, Helsinki, Finland; University of Helsinki, Helsinki, Finland.
authors.forename: Pentti
authors.initials: P
authors.lastname: Tienari
mesh_terms: D000328:Adult; D051401:Aquaporin 4 / Q000134:cerebrospinal fluid; D059472:Exome / Q000235:genetics*; D005260:Female; D005387:Finland; D006649:Histocompatibility Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009471:Neuromyelitis Optica / Q000134:cerebrospinal fluid / Q000235:genetics*
chemical_list: D051401:Aquaporin 4; D006649:Histocompatibility Antigens
keywords: Devic's syndrome; Neuromyelitis optica; Next generation sequencing