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Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection

Circ Genom Precis Med. 2019-06; 
Brooke N Wolford, Whitney E Hornsby, Dongchuan Guo, Wei Zhou, Maoxuan Lin, Linda Farhat, Jennifer McNamara, Anisa Driscoll, Xiaoting Wu, Ellen M Schmidt, Elizabeth L Norton, Michael R Mathis, Santhi K Ganesh, Nicholas J Douville, Chad M Brummett, Jacob Kitzman, Y Eugene Chen, Karen Kim, G Michael Deeb, Himanshu Patel, Kim A Eagle, Dianna M Milewicz, Cristen J Willer, Bo Yang
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Oligo pool … sequences 18 unique to each targeted region were selected using custom Python scripts, and synthesized in batch 19 as a microarray of 150mers (CustomArray, Inc). Probes were designed with identical adaptor 20 sequences … Get A Quote

摘要

background: Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or family members. methods: We performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity. results: Twenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic var... More

关键词

aortic disease, genetics, rupture, whole exome sequencing