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Abstract Details

Variants of Uncertain Significance in Patients with Cervical Artery Dissection
Cerebrovascular Disease and Interventional Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
4-022

This study aims to address whether genetic variants of uncertain significance (VUSs) in patients with cervical artery dissection (CeAD) are enriched in genes affecting arterial structure and organization.

CeAD is a leading cause of ischemic stroke in young adults. Unfortunately, the underlying genetics of the disease remains poorly understood; in part, due to the rarity of the disease limiting genetic discovery studies.
We identified patients diagnosed with CeAD through the electronic medical record at a single institution using ICD-10 codes. We included those who underwent panel-based genetic testing. Cases of monogenic connective tissue diseases were excluded. We utilized the NIH Database for Annotation, Visualization, and Integrated Discovery (DAVID) on VUSs to calculate gene enrichment and function.
Thirty-two eligible patients (78% female) had a CeAD at a mean age of 43.4 years. Of these patients, five had VUSs in two genes, one had VUSs in three genes, and one had VUSs in four genes, totaling 42 unique VUSs. Twelve of these patients (38%) had a documented family history of stroke, and fifteen (47%) had a documented past medical history of stroke. VUS allele frequencies ranged from 6.19*10-7 to 7.86*10-4. Gene ontology analysis using DAVID demonstrated high enrichment scores for collagen and epidermal growth factor (EGF) annotation clusters.
Our preliminary analysis demonstrated that VUSs in patients with CeAD were enriched in collagen- and EGF-affecting genes. This suggests that these VUSs may have clinical significance in CeAD, potentially providing novel mechanistic insights into this understudied disease and validating the use of genetic testing for patients with CeAD. Future studies are underway, including an analysis of all patients with CeAD who underwent genetic testing and a comparison of the initial clinical presentation of patients with CeAD.
Authors/Disclosures
David DiMeglio
PRESENTER 		Mr. DiMeglio has nothing to disclose.
Robert B. Ferguson, Jr., MD Dr. Ferguson has nothing to disclose.
Scott C. Thomas, PhD Dr. Thomas has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Periomics Care.
Chad M. Aldridge, PT Dr. Aldridge has nothing to disclose.
Kaitlyn K. Amos, LCGC Miss Amos has nothing to disclose.
Bradford B. Worrall, MD, MSc, FAAN (University Of Virginia Health System) The institution of Dr. Worrall has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. The institution of Dr. Worrall has received research support from NIH. The institution of Dr. Worrall has received research support from AHA/ASA.
Andrew M. Southerland, MD, FAAN (University of Virginia, Dept of Neurology) Dr. Southerland has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Plaintiffs and Defense Cases related to Stroke and Vascular Neurology.. The institution of Dr. Southerland has received research support from American Heart Association. The institution of Dr. Southerland has received research support from NIH. The institution of Dr. Southerland has received research support from Abbvie Pharmaceuticals, Inc.. Dr. Southerland has received intellectual property interests from a discovery or technology relating to health care. Dr. Southerland has received intellectual property interests from a discovery or technology relating to health care.