The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome / 中华整形外科杂志

ABSTRACT

<p><b>OBJECTIVE</b>We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for contrast.</p><p><b>METHODS</b>The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing.</p><p><b>RESULTS</b>A 892C > T at nucleotides in FOXL2 was found in the twelve affected patients. No mutations was found in any of the health members in the family.</p><p><b>CONCLUSIONS</b>FOXL2 may be a important pathogenesis for the disease in this Chinese family.</p>