Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.
The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated complications. A differential diagnosis of WAS should be considered in any male child who present with early onset thrombocytopenia, especially when this is associated with eczema and recurrent infections.
Institute for Medical Research, Allergy and Immunology Research Centre, Jalan Pahang, 50588 Kuala Lumpur, Malaysia. mohdfarid@imr.gov.my.
Mohd Farid
MF
Baharin
Sabeera Begum
SB
Kader Ibrahim
Song Hong
SH
Yap
Aina Mariana
AM
Abdul Manaf
Adiratna
A
Mat Ripen
Jasbir Singh
JS
Dhaliwal
D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008296:Malaysia; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
D018389:Codon, Nonsense; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein