J Korean Med Sci.  2007 Dec;22(6):998-1001. 10.3346/jkms.2007.22.6.998.

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

• Park SK
• Kim CS
• Song DK
• Kim JY
• Choi IJ
• Kim DK

• KMID: 1785760
• DOI: http://doi.org/10.3346/jkms.2007.22.6.998

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.

Keyword

Wiskott-Aldrich Syndrome; Mutation Analysis; Wiskott-Aldrich Syndrome Protein, Neuronal

MeSH Terms

*Exons
Humans
Infant, Newborn
Male
*Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Wiskott-Aldrich Syndrome/*genetics
Wiskott-Aldrich Syndrome Protein/*genetics

Figure

• 

  Fig. 1 Single-strand conformational polymorphism patterns for exon 2 of the WAS gene. Patient's mother and his maternal grandmother showed an extra band above upper normal single strand band in lane 5 and 7. In lane 6 and 8, patient and maternal uncle exhibited two bands, a normal lower single strand band and a mobility shift band. In lane 1-4, normal subjects showed two single strand bands.

• 

  Fig. 2 Sequencing identification of the missense mutation in exon 2 of the WAS gene. The asterisk (*) indicated a single base "G" to "A" substitution in the affected patient (C) compared with a normal control (A), causing replacement of arginine by histidine at the amino acid residue 86 (Arg86His). WAS exon 2 sequence in female heterozygotes (B).

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