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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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Author(s)
Sook-Kyung ParkChun-Soo KimDae-Kyu SongJoo-Young KimIn-Jang ChoiDae-Kwang Kim
Keimyung Author(s)
Choi, In JangKim, Chun SooSong, Dae KyuKim, Dae Kwang
Department
Dept. of Anatomy (해부학)
Dept. of Pediatrics (소아청소년학)
Dept. of Physiology (생리학)
Dept. of Medical Genetics (의학유전학)
Institute for Cancer Research (암연구소)
Journal Title
Journal of Korean Medical Science
Issued Date
2007
Volume
22
Issue
6
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.
Keimyung Author(s)(Kor)
최인장
김천수
송대규
김대광
Publisher
School of Medicine
Citation
Sook-Kyung Park et al. (2007). A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene. Journal of Korean Medical Science, 22(6), 998–1001. doi: 10.3346/jkms.2007.22.6.998
Type
Article
ISSN
1011-8934
DOI
10.3346/jkms.2007.22.6.998
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33925
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Anatomy (해부학)
1. School of Medicine (의과대학) > Dept. of Medical Genetics (의학유전학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
1. School of Medicine (의과대학) > Dept. of Physiology (생리학)
3. Research Institutues (연구소) > Institute for Cancer Research (암연구소)
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