Mutation Analysis Of FOXL2 Gene In Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)

OBJECTIVE:To analyse mutations of FOXL2 gene in 8 patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and predict the changes of gene expression caused by them.To imporve the diagnostic accuracy of the disease and as the foundation to gene therapy.METHORD:Five-millimeter samples of peripheral venous blood were collected from the eight patients and their family members.Genomic DNA was extracted from each sample. Three pairs of PCR primers were designed and FOXL2 was amplified by polymerase chain reaction (PCR).And then the PCR products were analyzed by direct genomic sequencing.RESULTS:4 patients in the two families have a c.672₇01dup30 duplication,3 sporadic cases have c.655C> T nonsense mutation, c.370 A> G missense mutation andc.858₈74dupl7 duplication,respectively. Only one sporadic case was not detected any mutation of FOXL2 gene.CONCLUSIONS:Two novel mutations in FOXL2 (c.370 A>G, c.858₈74dup17)were found in sporadic patients.We found c.672₇01dup30 duplication in 4 patients of two families. Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2. The patient without FOXL2 mutation needs conventional cytogenetic investigations.