A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome.

[wiskott-aldrich syndrome]

Wiskott-Aldrich syndrome (WAS ) is a rare inherited X-linked recessive immunodeficiency disease characterized by eczema , thrombocytopenia , immune deficiency , and bloody diarrhea and is caused by WASP gene mutations . This study reports a case of WAS with a novel mutation . A newborn Chinese infant was admitted to the hospital because of intermittent bloody stools , recurrent infections , and persistent thrombocytopenia . Genetic analysis of the coding sequences and flanking splice sites of the WASP gene showed a novel WASP gene deletion mutation (1144 delA ) at exon 10 . Family history showed that both his mother and aunt had a heterozygous genotype of the WASP gene . The infant died at the age of 4 Â months due to persistent thrombocytopenia and severe pneumonia . A novel WASP gene deletion (1144 delA ) at exon 10 was identified in a Chinese infant with WAS . This base deletion results in a frame-shift mutation of the gene for an early stop codon at amino acid 444 .