Pegasus causes inherited thrombocytopenia

Abstract

In this issue of Blood, Lentaigne et al identified novel pathogenetic missense mutations in the IKAROS family zinc finger 5 (IKZF5) gene that were associated with isolated thrombocytopenia in 3 pedigrees, affecting a total of 20 individuals and representing de novo mutations also associated with isolated thrombocytopenia in 3 individuals from 2 pedigrees.