A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family.

We report here on a Saudi family with two affected males with Wiskott-Aldrich syndrome (WAS), which includes mild to moderate bleeding and a low platelet count. A novel splice donor-site mutation (811 + 5 G <-- C) in intron 8 of the WAS gene (Genbank accession number NM_000377) was detected in a hemizygous status in both index cases, heterozygous in their mother and absent in the father. RNA from both index cases was transcribed and amplified with primers complementary to sequences in exons 7 and 10.