| Mutational Analysis of FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) Patients. |
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Sin Chul Kim, Soon Cheol Cha, Wha Sun Chung, Yeon Sil Jang, Jae Ryong Kim |
1Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Korea. chungwha@med.yu.ac.kr
2Department of Biochemistry and Molecular biology, Yeungnam University College of Medicine, Daegu, Korea. |
| 검열축소증후군 환자에서 FOXL2 유전자의 돌연변이 |
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김신철 ( Sin Chul Kim ) , 차순철 ( Soon Cheol Cha ) , 정화선 ( Wha Sun Chung ) , 장연실 ( Yeon Sil Jang ) , 김재룡 ( Jae Ryong Kim ) |
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| Abstract |
PURPOSE
The purpose of this paper is to identify the forkhead transcription factor gene (FOXL2) mutations in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: We have analyzed the mutations of FOXL2 gene in genomic DNAs extracted from 16 BPES patients and their families by PCR, PCR-SSCP, and sequencing. RESULTS: No deletion in exon 1 to 3 of the FOXL2 gene was observed by PCR. The PCR products were subjected to SSCP analysis and 9 patients showed SSCP shifts. The PCR products showing SSCP shifts were subcloned into plasmid vectors and sequenced to confirm the FOXL2 mutation. In total, 7 mutations (1 nonsense mutation, 1 deletion, and 5 duplications) in exon 2 were identified. CONCLUSIONS: The FOXL2 gene mutations were identified in the Korean BPES patients. Some of the mutations were previously reported and some were new mutations. This study will contribute to the molecular analysis and clinical counseling of BPES patients. |
| Key Words:
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES);Forkhead transcription factor (FOXL2) gene;Mutation |
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