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

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003525. doi: 10.1101/mcs.a003525. Print 2018 Dec.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Coagulation Tests
  • Factor XIII / genetics*
  • Factor XIII / metabolism
  • Factor XIII Deficiency / genetics*
  • Factor XIII Deficiency / physiopathology
  • Hematoma
  • Humans
  • Infant
  • Intracranial Hemorrhages / genetics*
  • KRIT1 Protein / genetics
  • Male
  • Postoperative Hemorrhage
  • Stroke / genetics
  • Whole Genome Sequencing

Substances

  • KRIT1 Protein
  • KRIT1 protein, human
  • Factor XIII