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A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene

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Affiliated Author(s)
최인장김천수송대규김대광
Alternative Author(s)
Choi, In JangKim, Chun SooSong, Dae KyuKim, Dae Kwang
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934
Issued Date
2007
Keyword
Wiskott-Aldrich SyndromeMutation AnalysisWiskott-Aldrich Syndrome ProteinNeuronal
Abstract
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized
classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype
observed in this syndrome is caused by mutation in the WAS gene. Peripheral
blood DNAs were isolated from an 18-month-old boy with WAS and his mother,
maternal uncle, and maternal grandmother. Genetic analysis for the detection of a
mutation of WAS gene was performed by polymerase chain reaction-single strand
conformational polymorphism analysis (PCR-SSCP) and direct sequencing of the
PCR product. In PCR-SSCP, the patient and his maternal uncle had an abnormal
shift band, which was not found in normal controls, and his mother and maternal
grandmother showed heterozygous bands. In direct sequencing analysis, the patient
with WAS had CGC→CAC point mutation in exon 2 that resulted in an amino acid
change in codon 86 (Arg86His). The present study identified a gene mutation responsible
for WAS at a mutation hotspot of the WAS gene in a Korean family.
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