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...

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Bibliographic Details
Published in:Korean journal of pediatrics 2013-06, Vol.56 (6), p.265-268
Main Authors: Lee, Eu Kyoung, Eem, Yeun-Joo, Chung, Nack-Gyun, Kim, Myung Shin, Jeong, Dae Chul
Format: Article
Language:English
Subjects:
Case Report
Mutation
Sequence deletion
Wiskott-Aldrich syndrome
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Summary: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.
ISSN:1738-1061
2092-7258
DOI:10.3345/kjp.2013.56.6.265