The FOXL2Gene Mutation Screening Of A Family With Congenital Blepharophimosis-ptosis-epicanthus Inversus Syndrome(BPES)

Objective Screening the FOXL2gene in a Chinese family with congenitalblepharophimosis-ptosis–epicanthus inversus syndrome(BPES), to determine thedisease-causing gene and explore pathogenesis.Methods A BPES family that total23members were recruited,10were affected,13unaffeced. The BPES patients were undergone opthalmic examination,including visualacuity, slit-lamp and measurement of the diameter of palpebral fissure. then,drew thepedigree and analysed the clinical characteristics. Genomic DNA was extracted fromthe peripheral blood of the BPES patients,the relatives of the families and the normalcontrols in the context of consent. The exon of the gene was amplified by thepolymerase chain reaction (PCR). The mutation of FOXL2was screened by directsequencing of the purifyed PCR products. The sequencing results were analyzed byDNAStar software.Results1) the Clinical characteristics of blepharophimosis,ptosis,epicanthusinversus of the whole patients Comply with the diagnosis of congenital BPES. Thegenetic characteristics of the family including transmission from one generation to thenext directly and continuously, equal prevalence between men and women agree withthe autosomal dominant genetic disease2) A missense mutation (C.578A>G) inFOXL2had been detected in the patients, which caused lysine mutated into arginine. Conclusions C.578A>G missense mutation of FOXL2may change the protein bysubstituting arginine from lysine, it may cause BPES in the family. It is the first reportabout the mutation in a Chinese family and is significant for genetic counseling andtreatment of BPES.