Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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WASP 유전자의 Exon 2에서 새로운 돌연변이를 가진 Wiskott-Aldrich 증후군의 1례

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

  • 이혁 (전북대학교 의과대학 소아과학교실) ;
  • 박정인 (전북대학교 의과대학 소아과학교실) ;
  • 김선영 (전북대학교 의과대학 소아과학교실) ;
  • 문경희 (전북대학교 의과대학 소아과학교실) ;
  • 이호근 (전북대학교 치과대학 생화학교실) ;
  • 황평한 (전북대학교 의과대학 소아과학교실)
  • Lee, Hyuk (Department of Pediatrics, School of Medicine, Chonbuk National University) ;
  • Park, Jung-In (Department of Pediatrics, School of Medicine, Chonbuk National University) ;
  • Kim, Sun Young (Department of Pediatrics, School of Medicine, Chonbuk National University) ;
  • Moon, Kyeung Hee (Department of Pediatrics, School of Medicine, Chonbuk National University) ;
  • Yi, Ho Keun (Department of Biochemistry, School of Dentistry, Chonbuk National University) ;
  • Hwang, Pyeong Han (Department of Pediatrics, School of Medicine, Chonbuk National University)
  • 투고 : 2004.11.10
  • 심사 : 2004.12.29
  • 발행 : 2005.05.15
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초록

저자들은 혈소판 평균용적 및 혈소판 수의 감소, 심한 아토피 피부염 및 반복 감염을 임상적 증상으로 추정 진단된 WAS 환아로부터 WAS의 확진에 필수적인 분자학적 분석을 실시하여 WASP 단백질의 발현이 감소되어 있으며, WASP 유전자의 Exon 2, 번역 개시점으로부터 208번째의 염기서열 구아닌(g)이 아데닌(a)으로 변이되어 70번째 아미노산인 글라이신(Gly)이 알지닌(Arg)으로 변화된 missense 변이(G70A)를 발견하여 확진된 WAS 환자를 경험하였기에 문헌 고찰과 함께 이를 보고하는 바이다.

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.

키워드

참고문헌

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