Arne G Lindgren
Background: Embolic stroke of undetermined source (ESUS) is not known to be associated specifically with any monogenic condition and is probably related to a sum of different etiologies. We studied 3 families with familial clustering of stroke where the proband was younger than 56 years and experienced ESUS. Objective: To analyze the possibility of monogenic causes underlying stroke in young patients with ESUS and history of stroke heredity. Methods: Clinical data of 14 affected members and 10 healthy family members were compiled. Whole exome sequencing (WES) of all the probands was performed on Ion Proton (Life Technologies), using base and variant calling by Torrent Suite. Ion Reporter Libraries were generated with Ion AmpliSeq Exome RDY kit. We only considered exonic or splice-site variants with a minimum allele frequency <1%. A previously established comprehensive stroke gene panel was used to detect possible known monogenic causes for stroke. An autosomal dominant (AD) model of inheritance of the underlying disease was assumed. Results: Clinical traits are presented in the Table. Specific additional characteristics that might cause ESUS were identified for each individual family. However, no specific known monogenic forms of stroke was detected on WES of the 3 families. Conclusions: ESUS in families with clustering of stroke may be associated with specific clinical characteristics including prothrombotic/cardiological findings. This suggests that ESUS may sometimes be related to different monogenic diseases.
No datasets are available for this submission.
No license information is available for this submission.