A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus

作者：Qian, XQ; Shu, AL; Qin, W; Xing, QH; Gao, JJ; Yang, JD; Feng, GY; He, L^*

来源：Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2004, 554(1-2): 19-22.

DOI：10.1016/j.mrfmmm.2004.02.014

• BPES
• forkhead transcription factor 2 (FOXL-2)
• mutation
• 3 ' UTR
• genotype
• phenotype

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene. In this work, we reveal a novel insertion mutation in the 3'UTR of the FOXL2 gene in a big Chinese family which is to our knowledge the first BPES (type II) family reported in China. It is the first time that a 3'UTR mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES. Our result gains a greater insight into the function of 3'UTR in the FOXL2 gene.

• 出版日期2004-10-4
• 单位中国科学院; 上海交通大学