Article
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 2020
Richer Julie, Hill Hannah L, Wang Yu, Yang Min-Lee, Hunker Kristina L, Lane Jamie, Blackburn Susan, Coleman Dawn M, Eliason Jonathan, Sillon Guillaume, D'Agostino Maria-Daniela, Jetty Prasad, Mongeon François-Pierre, Laberge Anne-Marie, Ryan Stephen E, Fendrikova-Mahlay Natalia, Coutinho Thais, Mathis Michael R, Zawistowski Matthew, Hazen Stanley L, Katz Alexander E, Gornik Heather L, Brummett Chad M, Abecasis Goncalo, Bergin Ingrid L, Stanley James C, Li Jun Z, Ganesh Santhi K
Abstract excerpt
OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. Monogenic forms of multifocal fibromuscular dysplasia (mFMD) have not been previously defined. Approach and Results: We studied 4 independent probands with the COL5A1 pathogenic...
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