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Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke

Ilinca, Andreea LU orcid ; Puschmann, Andreas LU orcid ; Putaala, Jukka ; de Leeuw, Frank Erik ; Cole, John ; Kittner, Stephen ; Kristoffersson, Ulf LU and Lindgren, Arne G LU (2023) In European Journal of Human Genetics 31(2). p.239-242
Abstract

This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes... (More)

This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.

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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Human Genetics
volume
31
issue
2
pages
239 - 242
publisher
Nature Publishing Group
external identifiers
  • pmid:36253534
  • scopus:85139995985
ISSN
1476-5438
DOI
10.1038/s41431-022-01207-6
project
Young patients with Stroke in Skane
language
English
LU publication?
yes
additional info
© 2022. The Author(s).
id
881c4787-5432-4298-93be-0736d22fd51d
date added to LUP
2022-10-28 14:32:34
date last changed
2024-06-13 20:29:47
@article{881c4787-5432-4298-93be-0736d22fd51d,
  abstract     = {{<p>This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.</p>}},
  author       = {{Ilinca, Andreea and Puschmann, Andreas and Putaala, Jukka and de Leeuw, Frank Erik and Cole, John and Kittner, Stephen and Kristoffersson, Ulf and Lindgren, Arne G}},
  issn         = {{1476-5438}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{239--242}},
  publisher    = {{Nature Publishing Group}},
  series       = {{European Journal of Human Genetics}},
  title        = {{Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke}},
  url          = {{http://dx.doi.org/10.1038/s41431-022-01207-6}},
  doi          = {{10.1038/s41431-022-01207-6}},
  volume       = {{31}},
  year         = {{2023}},
}