FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

ABSTRACT: Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. We previously described six unrelated families with primary lymphedema-distichiasis in which patients showed different FOXC2 mutations located outside of the forkhead domain. Of those, four were missense mutations, one a frameshift mutation, and the last a stop mutation. To assess their pathogenic potential, we have now examined the subcellular localization and the transactivation activity of the mutated FOXC2 proteins. All six FO

SUBMITTER: Tavian D 

PROVIDER: S-EPMC5342337 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature