| A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene |
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Hyuk Lee1, Jung In Park1, Sun Young Kim,1, Kyeung Hee Moon1, Ho Keun Yi2, Pyoung Han Hwang1 |
1Department of Pediatrics, School of Medicine, Chonbuk National University Jeonju, Korea
2Department of Biochemistry, School of Dentistry, Chonbuk National University Jeonju, Korea |
| WASP 유전자의 Exon 2에서 새로운 돌연변이를 가진 Wiskott-Aldrich 증후군의 1례 |
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이혁1, 박정인1, 김선영1, 문경희1, 이호근2, 황편한1 |
1전북대학교 의과대학 소아과학교실
2전북대학교 치과대학 생화학교실 |
Correspondence:
Pyoung Han Hwang, Email: hwaph@chonbuk.ac.kr
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| Abstract |
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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. |
| Key Words:
Wiskott-Aldrich syndrome , WASP gene , Mutation |
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