Sequencing analysis of the FOXL2 locus from the affected individuals revealed a heterozygous missense mutation c.931C > T (p.H311Y) (Fig. 1c), which has never been reported in familial BPES and is absent in the 100 ethnically matched control chromosomes. The gene discussed is FOXL2; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.