Human exome sequence of a family with thrombocytopenia, red cell macrocytosis, & predisposition for ALL. Homo sapiens

Whole exome sequencing of a family with autosomal dominant thrombocytopenia, red cell macrocytosis and higher incidence of leukemia than expected. We performed whole exome sequencing in 8 members of the family. We found only 1 variant that segregated with the phenotype and was not in 1,000 genomes or other genomic databases. This was a missense mutation in the gene for the transcription factor ETV6 (ETV6). We validated this genetic finding with several functional experiments.