Cargando…

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the d...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Eu Kyoung, Eem, Yeun-Joo, Chung, Nack-Gyun, Kim, Myung Shin, Jeong, Dae Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693046/
https://www.ncbi.nlm.nih.gov/pubmed/23807894
http://dx.doi.org/10.3345/kjp.2013.56.6.265
_version_ 1782274697534111744
author Lee, Eu Kyoung
Eem, Yeun-Joo
Chung, Nack-Gyun
Kim, Myung Shin
Jeong, Dae Chul
author_facet Lee, Eu Kyoung
Eem, Yeun-Joo
Chung, Nack-Gyun
Kim, Myung Shin
Jeong, Dae Chul
author_sort Lee, Eu Kyoung
collection PubMed
description Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs(*)21) as a hemizygous form.
format Online
Article
Text
id pubmed-3693046
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher The Korean Pediatric Society
record_format MEDLINE/PubMed
spelling pubmed-36930462013-06-27 A case of familial X-linked thrombocytopenia with a novel WAS gene mutation Lee, Eu Kyoung Eem, Yeun-Joo Chung, Nack-Gyun Kim, Myung Shin Jeong, Dae Chul Korean J Pediatr Case Report Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs(*)21) as a hemizygous form. The Korean Pediatric Society 2013-06 2013-06-21 /pmc/articles/PMC3693046/ /pubmed/23807894 http://dx.doi.org/10.3345/kjp.2013.56.6.265 Text en Copyright © 2013 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Eu Kyoung
Eem, Yeun-Joo
Chung, Nack-Gyun
Kim, Myung Shin
Jeong, Dae Chul
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title_full A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title_fullStr A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title_full_unstemmed A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title_short A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
title_sort case of familial x-linked thrombocytopenia with a novel was gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693046/
https://www.ncbi.nlm.nih.gov/pubmed/23807894
http://dx.doi.org/10.3345/kjp.2013.56.6.265
work_keys_str_mv AT leeeukyoung acaseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT eemyeunjoo acaseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT chungnackgyun acaseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT kimmyungshin acaseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT jeongdaechul acaseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT leeeukyoung caseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT eemyeunjoo caseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT chungnackgyun caseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT kimmyungshin caseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation
AT jeongdaechul caseoffamilialxlinkedthrombocytopeniawithanovelwasgenemutation