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

RCIGM Investigators

doi:10.1101/mcs.a003525

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

RCIGM Investigators

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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).

Original language	English
Journal	Cold Spring Harbor Molecular Case Studies
Volume	4
Issue number	6
DOIs	https://doi.org/10.1101/mcs.a003525
State	Published - Dec 2018
Externally published	Yes

Keywords

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

Access to Document

10.1101/mcs.a003525

Cite this

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

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 = "Blood Coagulation Tests, Factor XIII/genetics, Factor XIII Deficiency/genetics, Hematoma, Humans, Infant, Intracranial Hemorrhages/genetics, KRIT1 Protein/genetics, Male, Postoperative Hemorrhage, Stroke/genetics, Whole Genome Sequencing",

author = "{RCIGM Investigators} and Benjamin Briggs and James, {Kiely N} and Shimul Chowdhury and Courtney Thornburg and Lauge Farnaes and David Dimmock and Kingsmore, {Stephen F}",

note = "{\textcopyright} 2018 Briggs et al.; Published by Cold Spring Harbor Laboratory Press.",

year = "2018",

month = dec,

doi = "10.1101/mcs.a003525",

language = "English",

volume = "4",

journal = "Cold Spring Harbor Molecular Case Studies",

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publisher = "Cold Spring Harbor Laboratory Press",

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T1 - Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

AU - RCIGM Investigators

AU - Briggs, Benjamin

AU - James, Kiely N

AU - Chowdhury, Shimul

AU - Thornburg, Courtney

AU - Farnaes, Lauge

AU - Dimmock, David

AU - Kingsmore, Stephen F

PY - 2018/12

Y1 - 2018/12

N2 - 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).

AB - 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).

KW - Blood Coagulation Tests

KW - Factor XIII/genetics

KW - Factor XIII Deficiency/genetics

KW - Hematoma

KW - Humans

KW - Infant

KW - Intracranial Hemorrhages/genetics

KW - KRIT1 Protein/genetics

KW - Male

KW - Postoperative Hemorrhage

KW - Stroke/genetics

KW - Whole Genome Sequencing

U2 - 10.1101/mcs.a003525

DO - 10.1101/mcs.a003525

M3 - Article

C2 - 30404926

SN - 2373-2873

VL - 4

JO - Cold Spring Harbor Molecular Case Studies

JF - Cold Spring Harbor Molecular Case Studies

IS - 6

ER -