A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene / 소아과
Korean Journal of Pediatrics
;
: 551-556, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-109130
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Braço
/
Trombocitopenia
/
Vespas
/
Síndrome de Wiskott-Aldrich
/
Cromossomo X
/
Plaquetas
/
DNA
/
Immunoblotting
/
Éxons
Tipo de estudo:
Estudo diagnóstico
/
Estudo de incidência
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2005
Tipo de documento:
Artigo
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