A stroke gene panel for whole-exome sequencing
Ilinca, Andreea LU
; Samuelsson, Sofie
LU
; Piccinelli, Paul
LU
; Soller, Maria
LU
; Kristoffersson, Ulf
LU
and Lindgren, Arne G.
LU
(2019)
In European Journal of Human Genetics
27(2).
p.317-324
- Abstract
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm,... (More)
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection, occlusion), (3) cerebral small-vessel diseases, (4) cardioembolic (arrhythmia, heart defect, cardiomyopathy), (5) coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), (6) intracerebral hemorrhage, (7) vascular malformations (cavernoma, arteriovenous malformations), and (8) metabolism disorders. Second, we selected other genes that may plausibly cause stroke through diseases related to stroke, but without any documented stroke patient description. A third section comprised SNPs associated with stroke in genome-wide association studies (GWAS). We identified in total 214 genes: 120 associated with stroke, 62 associated with diseases that may cause stroke, and 32 stroke-related genes from recent GWAS. We describe these 214 genes and the clinical stroke subtype(s) associated with each of them. The resulting gene panel can be used to interpret exome sequencing results regarding monogenic stroke. Based on the panel’s clinical phenotype description, the pathogenicity of novel variants in these genes may be evaluated in specific situations.
(Less)
- author
- Ilinca, Andreea
LU
; Samuelsson, Sofie
LU
; Piccinelli, Paul
LU
; Soller, Maria
LU
; Kristoffersson, Ulf
LU
and Lindgren, Arne G.
LU
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Human Genetics
- volume
- 27
- issue
- 2
- pages
- 317 - 324
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:85055450723
- pmid:30356112
- ISSN
- 1018-4813
- DOI
- 10.1038/s41431-018-0274-4
- language
- English
- LU publication?
- yes
- id
- ce7ad9c7-90ad-4757-aa3b-b67cc4657eb4
- date added to LUP
- 2018-11-20 08:14:17
- date last changed
- 2024-07-23 03:22:52
@article{ce7ad9c7-90ad-4757-aa3b-b67cc4657eb4,
abstract = {{<p>Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection, occlusion), (3) cerebral small-vessel diseases, (4) cardioembolic (arrhythmia, heart defect, cardiomyopathy), (5) coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), (6) intracerebral hemorrhage, (7) vascular malformations (cavernoma, arteriovenous malformations), and (8) metabolism disorders. Second, we selected other genes that may plausibly cause stroke through diseases related to stroke, but without any documented stroke patient description. A third section comprised SNPs associated with stroke in genome-wide association studies (GWAS). We identified in total 214 genes: 120 associated with stroke, 62 associated with diseases that may cause stroke, and 32 stroke-related genes from recent GWAS. We describe these 214 genes and the clinical stroke subtype(s) associated with each of them. The resulting gene panel can be used to interpret exome sequencing results regarding monogenic stroke. Based on the panel’s clinical phenotype description, the pathogenicity of novel variants in these genes may be evaluated in specific situations.</p>}},
author = {{Ilinca, Andreea and Samuelsson, Sofie and Piccinelli, Paul and Soller, Maria and Kristoffersson, Ulf and Lindgren, Arne G.}},
issn = {{1018-4813}},
language = {{eng}},
number = {{2}},
pages = {{317--324}},
publisher = {{Nature Publishing Group}},
series = {{European Journal of Human Genetics}},
title = {{A stroke gene panel for whole-exome sequencing}},
url = {{http://dx.doi.org/10.1038/s41431-018-0274-4}},
doi = {{10.1038/s41431-018-0274-4}},
volume = {{27}},
year = {{2019}},
}