A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene.
- Author:
Hyuk LEE
1
;
Jung In PARK
;
Sun Young KIM
;
Kyeung Hee MOON
;
Ho Keun YI
;
Pyoung Han HWANG
Author Information
1. Department of Pediatrics, School of Medicine, Chonbuk National University Jeonju, Korea. hwaph@chonbuk.ac.kr
- Publication Type:Case Report
- Keywords:
Wiskott-Aldrich syndrome;
WASP gene;
Mutation
- MeSH:
Arm;
Blood Platelets;
Clone Cells;
Cloning, Organism;
Diagnosis;
DNA;
Eczema;
Exons*;
Humans;
Immune System Diseases;
Immunoblotting;
Incidence;
Infant;
Male;
Phenotype;
Thrombocytopenia;
Wasps*;
Wiskott-Aldrich Syndrome*;
X Chromosome
- From:Korean Journal of Pediatrics
2005;48(5):551-556
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated through positional cloning. The gene encodes a 502 amino acid protein, which contains 12 exons and spans 9 kb of genomic DNA. The function of the encoded protein is not well understood. The clinical diagnosis of WAS can be difficult and is usually confirmed by the detection of WASP gene mutations and the expression of WSAP in patient blood sample using genetic analysis. We reported a case of a 13-month old boy with WAS who was identified with the novel mutation in exon 2 of WASP gene by direct sequencing and the complete absence of WASP expression by immunoblotting.
