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An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease

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Aloui, Chaker | Neumann, Lisa | Bergametti, Françoise | Sartori, Eric | Herbreteau, Marc | Maillard, Arnaud | Coste, Thibault | Morel, Hélène | Hervé, Dominique | Chabriat, Hugues | Timsit, Serge | Viakhireva, Irina | Denoyer, Yves | Allibert, Remi | Demurger, Florence | Gollion, Cédric | Vermersch, Patrick | Marchelli, Florence | Blugeon, Corinne | Lemoine, Sophie | Tourtier-Bellosta, Claire | Brouazin, Alexis | Leutenegger, Anne-Louise | Pipiras, Eva | Tournier-Lasserve, Elisabeth

Edité par CCSD ; American Medical Association -

International audience. Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes.Objective: To identify novel genes and mechanisms associated with familial CSVD.Design, setting, and participants: This 2-stage study involved linkage analysis and a case-control study; linkage analysis and whole exome and genome sequencing were used to identify candidate gene variants in 2 large families with CSVD (9 patients with CSVD). Then, a case-control analysis was conducted on 246 unrelated probands, including probands from these 2 families and 244 additional probands. All probands (clinical onset

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