Korean J Pediatr.
2013 Jun;56(6):265-268.
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
- Affiliations
-
- 1Department of Pediatrics, The Catholic University of Korea College of Medicine, Seoul, Korea. dcjeong@catholic.ac.kr
- 2Department of Clinical Laboratory, The Catholic University of Korea College of Medicine, Seoul, Korea.
Abstract
- 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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia
- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
- Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
- A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
