A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

Figure 1

Family pedigree and mutation in WAS. (a) Family pedigree. (b) Sanger sequencing chromatograms depicting the (splicing) hemizygous mutation in WAS from the patient and the heterozygous mutation in his mother. (c) WAS gene showing the location of the patient’s mutation indicated by the arrow. cDNA organization of WAS coding sequence and WASP structure. Boxes with numbers represent exons. Schematic diagram of WASP functional domains [4].

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