Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

The autosomal dominant, giant-platelet disorders1, May-Hegglin anomaly2,3 (MHA; MIM 155100), Fechtner syndrome4 (FTNS; MIM 153640) and Sebastian syndrome5 (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (?Dohle-like? bodies). MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of...