December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Mutational Analysis of the Putative Forkhead Transcription Factor (FOXL2) in Korean Patients With Blepharophimosis
Author Affiliations & Notes
  • W-S Chung
    Department of Ophthalmology
    College of Medicine Yeungnam University Daegu Republic of Korea
  • JR Kim
    Department of Biochemistry and Molecular Biology
    College of Medicine Yeungnam University Daegu Republic of Korea
  • SC Cha
    Daegu Republic of Korea
  • SC Kim
    Daegu Republic of Korea
  • YS Jang
    Daegu Republic of Korea
  • JH Lee
    Daegu Republic of Korea
  • SY Kim
    Daegu Republic of Korea
  • Footnotes
    Commercial Relationships   W. Chung, None; J.R. Kim, None; S.C. Cha , None; S.C. Kim , None; Y.S. Jang , None; J.H. Lee , None; S.Y. Kim , None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 820. doi:
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    • Get Citation

      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.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : 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.

Keywords: 480 mutations • 476 molecular biology • 420 genetics 
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