Purchase this article with an account.
W-S Chung, JR Kim, SC Cha, SC Kim, YS Jang, JH Lee, SY Kim; Mutational Analysis of the Putative Forkhead Transcription Factor (FOXL2) in Korean Patients With Blepharophimosis . Invest. Ophthalmol. Vis. Sci. 2002;43(13):820.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) is an autosomal dominant and genetically heterogeneous disorder. Recently, the mutations of putative forkhead transcription factor (FOXL2) on chromosome 3q23 were reported and thus the FOXL2 is suggested to be a candidate gene in the pathogenesis of BPES. The purpose of this study is to investigate the mutations of FOXL2 gene in Korean patients with BPES. Methods: Polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP), and direct sequencing technique were used to analyze the mutations of FOXL2 in genomic DNAs extracted from 16 Korean BPES patients. Results: No deletion in exon 1 to 3 of FOXL2 gene was observed by PCR. SSCP shifts were noted in exon 1 of one patient (6%), in exon 2 of 7 patients (44%) and in exon 3 of one patient. The PCR products showing SSCP shifts were directly sequenced or subcloned into plasmid vectors to confirm the FOXL2 mutation. Conclusion: The mutations were identified and confirmed in exons of FOXL2 gene showing SSCP shifts. This study will contribute to the molecular analysis and clinical counseling of blepharophimosis patients.
This PDF is available to Subscribers Only