Germline mutations in ETV6 result in autosomal dominant thrombocytopenia
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Whole exome sequencing on a family with autosomal dominant thrombocytopenia and two occurrences of acute lymphoblastic leukemia (ALL) of unknown cause identified a heterozygous single nucleotide change in the gene ETV6, encoding a p.Pro214Leu amino acid substitution. We screened families with the same phenotype and found mutations in ETV6 in two additional families: one with the identical p.Pro214Leu mutation and one with a p.Arg418Gly substitution. ETV6 is a transcriptional repressor that functions through self-oligomerization and is essential for hematopoietic stem cell proliferation and ...