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

doi:10.1016/j.jneuroim.2015.11.002

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

Research output: Contribution to journal › Article › Scientific › peer-review

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.

Original language	English
Journal	Journal of Neuroimmunology
Volume	289
Pages (from-to)	139-142
Number of pages	4
ISSN	0165-5728
DOIs	https://doi.org/10.1016/j.jneuroim.2015.11.002
Publication status	Published - 15 Dec 2015
MoE publication type	A1 Journal article-refereed

Fields of Science

3125 Otorhinolaryngology, ophthalmology
3124 Neurology and psychiatry

Access to Document

10.1016/j.jneuroim.2015.11.002

Cite this

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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.",

keywords = "3125 Otorhinolaryngology, ophthalmology, Ophthalmology, Neuro-ophthalmology, Silm{\"a}tautioppi, 3124 Neurology and psychiatry",

author = "Mika Siuko and Miko Valori and Tero Kivel{\"a} and Kirsi Set{\"a}l{\"a} and Andr{\'e}anne Morin and Tony Kwan and Tomi Pastinen and Pentti Tienari",

year = "2015",

month = dec,

day = "15",

doi = "10.1016/j.jneuroim.2015.11.002",

language = "English",

volume = "289",

pages = "139--142",

journal = "Journal of Neuroimmunology",

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publisher = "Elsevier Scientific Publ. Co",

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TY - JOUR

T1 - Exome and regulatory element sequencing of neuromyelitis optica patients

AU - Siuko, Mika

AU - Valori, Miko

AU - Kivelä, Tero

AU - Setälä, Kirsi

AU - Morin, Andréanne

AU - Kwan, Tony

AU - Pastinen, Tomi

AU - Tienari, Pentti

PY - 2015/12/15

Y1 - 2015/12/15

N2 - 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.

AB - 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.

KW - 3125 Otorhinolaryngology, ophthalmology

KW - Ophthalmology

KW - Neuro-ophthalmology

KW - Silmätautioppi

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.jneuroim.2015.11.002

DO - 10.1016/j.jneuroim.2015.11.002

M3 - Article

SN - 0165-5728

VL - 289

SP - 139

EP - 142

JO - Journal of Neuroimmunology

JF - Journal of Neuroimmunology

ER -