ROLE OF THE BLEPHAROPHIMOSIS/PTOSIS EPICANTHUS INVERSUS SYNDROME (BPES) GENE FOXL2 IN OVARIAN AND EYE DEVELOPMENT

Type I BPES is an hereditary disorder in which eyelid abnormalities are associated with Female Infertility. Type II BPES shows only the eyelid defects. We recently demonstrated that mutations in the novel gene FOXL2 are associated with both types of BPES. With this proposal we aim at better defining the role of FOXL2 in ovarian and eye development. We plan to evaluate the genetic differences in type I and type II BPES. We also plan to evaluate the role of this gene in other conditions in case of Female Infertility not associated with BPES (this is common conditions affecting about 1% of the women). Also we plan to identify the other genes which work together with FOXL2 to develop a normal ovary and eye. We are also interested in the development of an animal model of BPES with the inactivation of the Foxl2 gene in mouse. In the short term the results of our study will lead to better diagnostic tools for the genetic disorder BPES and eventually will lead to an early diagnosis of Female Infertility so that egg storage might become an alternative. With this study we will have a better understanding of the eye and ovary development and, in the long term, our study will provide targets for intervention that might prolong ovarian function, or to reactivate the gene both for therapy of BPES as well as for Female Infertility.