Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Benjamin Briggs, Kiely N James, Shimul Chowdhury, Courtney Thornburg, Lauge Farnaes, David Dimmock, Stephen F Kingsmore, RCIGM Investigators, Benjamin Briggs, Kiely N James, Shimul Chowdhury, Courtney Thornburg, Lauge Farnaes, David Dimmock, Stephen F Kingsmore, RCIGM Investigators

Abstract

Pediatric stroke can be either hemorrhagic or ischemic, with ∼5% of hemorrhagic strokes being caused by genetic coagulopathies. We report an 8 mo old presenting with a hemorrhagic stroke caused by severe Factor XIII deficiency (OMIM # 613225) in whom rapid whole-genome sequencing identified a novel variant in the F13A1 gene c.1352_1353delAT (p.His451ArgfsTer29).

Keywords: intracranial hemorrhage; stroke-like episodes.

© 2018 Briggs et al.; Published by Cold Spring Harbor Laboratory Press.

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