[Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].

Objective To detect FOXL2 gene mutation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type Ⅰ, and to explore its genotype -phenotype correlation. Methods Peripheral blood samples were obtained from 3 patients and 19 healthy members from the pedigree for the isolation of genomic DNA. All exons and flanking sequences of the FOXL2 gene were amplified by PCR with 7 pairs of overlapping primers and sequenced. Results DNA sequencing indicated that the BPES phenotype in this pedigree was caused by a hotspot c. 843_859dup17 mutation. The same mutation was not found among the healthy members of the pedigree. Conclusion The c. 843_859dup17 frameshift mutation probably underlies the BPES type Ⅰin this Chinese pedigree, which may manifest as either BEPS type Ⅰ or type Ⅱ. Key words: Blepharophimosis-ptosis-epicanthus inversus syndrome; FOXL2 gene; Frameshift mutation