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Mutations in the WAS gene causing X-linked thrombocytopenia

Mutations in the WAS gene causing X-linked thrombocytopenia
This analysis includes patients worldwide with X-linked thrombocytopenia (XLT). This is a separate analysis from the Wiskott-Aldrich syndrome (WAS) mutation figure and includes additional patients with XLT. Note that missense mutations predominate and cluster in certain exons, although there is overlap with mutations causing WAS.
Data from:
  1. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): Hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104:4010.
  2. Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 2006; 117:725.
  3. Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options. Blood 2010; 115:3231.
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