Analysis of novel gene mutation in a case with Wiskott-Aldrich syndrome and its clinical characteristics

Abstract

Objective To explore one novel gene mutation case suffering from Wiskott-Aldrich syndrome(WAS) and its clinical characteristics. Methods Based on the typical clinical manifestations of WAS including thrombocytopenia, eczema, and recurrent infections, the patient was suspected of having WAS. The 12 exons of Wiskott-Aldrich syndrome protein(WASP) gene of the patient and his parents were detected by PCR direct sequencing analysis, and their phenotypes were analysed. Results By sequence analysis using primer separately, the author found one novel WASP gene mutation, a homozygous mutation, which might cause amino acid mutation. The novel mutation with nucleotide substitution of G to T at position 224(c. 224T>G) was found in exon 2 of WASP gene. The 224T>G resulted in the substitution of valine with glycine at position 75(p. V75G), his parents were not found to have WASP gene mutation. Conclusions One novel WASP gene mutation was found. The case had a mild phenotype. Genetic sequence analysis is useful in the diagnosis of WAS and WASP carrier detection. Key words: Wiskott-Aldrich syndrome; Proteins; Mutation