Blepharophimosis, Ptosis, and Epicanthus Inversus FOXL2 Normal Gene Product

Forkhead transcription factor. More than 20 human forkhead genes are known and several have been implicated in tumorigenesis (see review in Carlsson & Mahlapuu [2002]). So far, mutations in eight different forkhead genes have been associated with human developmental disorders. Their phenotypes are pleiotropic and include ocular, craniofacial, circulatory, skeletal, immune and gonadal defects. Four of the disorders include eye abnormalities (see review in Lehmann et al [2003]). Another member of the forkhead family, FOXO3a, has been shown to act as a suppressor of follicular activation as knockout mice develop a premature ovarian failure phenotype [Castrillon et al 2003]. Brunet et al [1999] previously demonstrated that the activation of many transcription factors involved in apoptosis can regulate the expression of FOXO3a, which may link FOXO3a to apoptosis of oocytes.