Korean J Pediatr.  2005 May;48(5):551-556.

A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene

• Lee H
• Park JI
• Kim SY
• Moon KH
• Yi HK
• Hwang PH

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.

Keyword

Wiskott-Aldrich syndrome; WASP gene; Mutation

MeSH Terms

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
DNA