Meanwhile, the de novo mutation in the sporadic case broadens the mutation spectrum of FOXL2. The new information concerning mutations in FOXL2 and the more widespread use of q-real-time PCR for deletion screening is likely to facilitate the clinical genetic diagnosis of BPES and lead to improved genetic counseling for a larger number of BPES patients. The gene discussed is FOXL2; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.