A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome
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Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder characterized by recurrent infection, eczema, and microthrombocytopenia. WAS is inherited in an X-linked recessive pattern, and various mutations in the WAS gene on the X chromosome are the genetic basis of WAS. A 7-month-old Korean boy presented with recurrent bloody diarrhea, eczema, and persistent thrombocytopenia with small platelets. Direct sequence analysis of the entire coding region of the WAS gene showed a novel nonsense mutation with a G-to-A substitution at the nucleotide position 756 on exon 8, leading to a premature termination at codon 252 (c.756G>A; p.W252X). Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation.
Key wordsWiskott-Aldrich syndrome WAS gene Mutation Korea
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- 1.Wiskott A. Familiarer, angeobren Morbus Werlhofi? [in German]. Monatschrift Kinderheil. 1937;68:212–216.Google Scholar
- 4.Imai K, Nonoyama S. Database of published WAS gene mutations, updated 2004. Apr.29. http://homepage.mac.com/kohsukeimai/wasp/WASPbase.html. Accessed April 5, 2006.Google Scholar
- 6.den Dunnen, J. Nomenclature for the description of sequence variations, updated September 23, 2005. http://www.genomic.unimelb. edu.au/mdi/mutnomen/. Accessed April 5, 2006.Google Scholar