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See Latest ArticlesPerspectives on RUNX genes: An update
American Journal of Medical Genetics, 10/16/09
Cohen Jr. MM – UNX1 mutations cause familial thrombocytopenia with a propensity for developing acute myelogenous leukemia; two functional consequences of these mutations include haploinsufficiency and a dominant negative effect. The latter tends to be associated with a higher frequency of leukemia. RUNX2 mutations cause cleidocranial dysplasia; most are of the missense type and commonly occur in the Runt domain. RUNX3 is a tumor suppressor gene with hemizygous deletion of one allele and hypermethylation of the other, resulting in gastric adenocarcinoma.
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