Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
genetic
genotype
mutation
pedigree
whole-exome sequencing
Journal
Stroke
ISSN: 1524-4628
Titre abrégé: Stroke
Pays: United States
ID NLM: 0235266
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
pubmed:
17
3
2020
medline:
17
9
2020
entrez:
17
3
2020
Statut:
ppublish
Résumé
Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident stroke families. With the use of a comprehensive stroke-gene panel, we searched for variants in stroke-related genes. The probands' clinical stroke subtype was related to clinical characteristics previously associated with pathogenic variants in these genes. Relatives were genotyped in 7 families to evaluate stroke-gene variants of unknown significance. In 2 larger families with embolic stroke of unknown source, whole-exome sequencing was performed in additional members to examine the possibility of identifying new stroke genes. Results- Six of 22 probands carried pathogenic or possibly pathogenic variants in genes reported to be associated with their stroke subtype. A known pathogenic variant in
Identifiants
pubmed: 32172663
doi: 10.1161/STROKEAHA.119.027474
pmc: PMC7584402
mid: NIHMS1560210
doi:
Types de publication
Clinical Trial
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1056-1063Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK072488
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS100178
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS105150
Pays : United States
Commentaires et corrections
Type : CommentIn
Type : ErratumIn
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