Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.

ABSTRACT: 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 possib

SUBMITTER: Ilinca A 

PROVIDER: S-EPMC7584402 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature