Ontology highlight
ABSTRACT:
SUBMITTER: Zhang MY
PROVIDER: S-EPMC4540357 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Nature genetics 20150112 2
We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399Cys, reside in the highly conserved ETS DNA-binding domain. The third variant, p.Pro214Leu, lies within the internal linker domain, which regulates DNA binding. These three amino ac ...[more]