All issues > Volume 48(5); 2005

Case Report

Korean J Pediatr. 2005;48(5):551-556. Published online May 15, 2005.

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

Hyuk H Lee¹, Jung In JI Park¹, Sun Young SY Kim,¹, Kyeung Hee KH Moon¹, Ho Keun HK Yi², Pyoung Han PH Hwang¹

¹Department of Pediatrics, School of Medicine, Chonbuk National University Jeonju, Korea
²Department of Biochemistry, School of Dentistry, Chonbuk National University Jeonju, Korea

Correspondence Pyoung Han PH Hwang ,Email: hwaph@chonbuk.ac.kr

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.

Keywords :Wiskott-Aldrich syndrome , WASP gene , Mutation