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Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318776/ https://www.ncbi.nlm.nih.gov/pubmed/30404926 http://dx.doi.org/10.1101/mcs.a003525 |
| _version_ | 1783384946966003712 |
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| author | Briggs, Benjamin James, Kiely N. Chowdhury, Shimul Thornburg, Courtney Farnaes, Lauge Dimmock, David Kingsmore, Stephen F. |
| author_facet | Briggs, Benjamin James, Kiely N. Chowdhury, Shimul Thornburg, Courtney Farnaes, Lauge Dimmock, David Kingsmore, Stephen F. |
| author_sort | Briggs, Benjamin |
| collection | PubMed |
| description | 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). |
| format | Online Article Text |
| id | pubmed-6318776 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Cold Spring Harbor Laboratory Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-63187762019-01-13 Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage Briggs, Benjamin James, Kiely N. Chowdhury, Shimul Thornburg, Courtney Farnaes, Lauge Dimmock, David Kingsmore, Stephen F. Cold Spring Harb Mol Case Stud Rapid Communication 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). Cold Spring Harbor Laboratory Press 2018-12 /pmc/articles/PMC6318776/ /pubmed/30404926 http://dx.doi.org/10.1101/mcs.a003525 Text en © 2018 Briggs et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited. |
| spellingShingle | Rapid Communication Briggs, Benjamin James, Kiely N. Chowdhury, Shimul Thornburg, Courtney Farnaes, Lauge Dimmock, David Kingsmore, Stephen F. Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title | Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title_full | Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title_fullStr | Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title_full_unstemmed | Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title_short | Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| title_sort | novel factor xiii variant identified through whole-genome sequencing in a child with intracranial hemorrhage |
| topic | Rapid Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318776/ https://www.ncbi.nlm.nih.gov/pubmed/30404926 http://dx.doi.org/10.1101/mcs.a003525 |
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