Disease:Defects in FOXL2 are a cause of blepharophimosis , ptosis , and epicanthus inversus syndrome (BPES) [MIM:110100]; also known as blepharophimosis syndrome. It is an autosomal dominant disorder characterized by eyelid dysplasia , small palpebral fissures , drooping eyelids and a skin fold running inward and upward from the lower lid. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF) . In type II BPSE (BPES2) affected individuals show only the eyelid defects. There is a mutational hotspot in the region coding for the poly-Ala domain , since 30% of all mutations in the ORF lead to poly-Ala expansions , resulting mainly in BPES type II. ,Disease:Defects in FOXL2 are a cause of premature ovarian failure 3 (POF3) [MIM:608996]. Premature ovarian failure (POF) is a defect of ovarian development and is characterized by hypoestrogenism , primary or secondary amenorrhea , with elevated levels of serum gonadotropins , or by early menopause. POF is defined as the cessation of ovarian function under the age of 40 years. ,Function:Probable transcriptional regulator. ,similarity:Contains 1 fork-head DNA-binding domain. ,tissue specificity:In addition to its expression in the developing eyelid , it is transcribed very early in somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular cells of the adult ovary. ,
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