Mutational Analysis of FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) Patients.
- Author:
Sin Chul KIM
1
;
Soon Cheol CHA
;
Wha Sun CHUNG
;
Yeon Sil JANG
;
Jae Ryong KIM
Author Information
1. Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Korea. chungwha@med.yu.ac.kr
- Publication Type:Original Article
- Keywords:
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES);
Forkhead transcription factor (FOXL2) gene;
Mutation
- MeSH:
Codon, Nonsense;
Counseling;
DNA;
Exons;
Humans;
Plasmids;
Polymerase Chain Reaction;
Polymorphism, Single-Stranded Conformational;
Transcription Factors
- From:Journal of the Korean Ophthalmological Society
2003;44(5):1172-1179
- CountryRepublic of Korea
- Language:Korean
-
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.
