Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
- Benjamin Briggs1,2,
- Kiely N. James1,
- Shimul Chowdhury1,
- Courtney Thornburg2,
- Lauge Farnaes1,
- David Dimmock1,
- Stephen F. Kingsmore1,
- on behalf of the RCIGM Investigators1
- 1Rady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA;
- 2Department of Pediatrics, Division of Hematology and Oncology, University of California, San Diego, California 92123, USA
- Corresponding author: bbriggs{at}rchsd.org
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).
Footnotes
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The views expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, or the United States Government.
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[Supplemental material is available for this article.]
- Received September 7, 2018.
- Accepted October 23, 2018.
This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
