Abstract
We examined mutations in the forkhead transcription factor gene, FOXL2, in three members a Japanese family with autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and in 100 healthy controls. The FOXL2 was analyzed by direct genomic sequencing. A novel 17-bp deletion at nucleotides 1092-1108 in FOXL2 was found in the three affected patients. No mutation was found in any of the 100 healthy controls. The 17-bp deletion in FOXL2 may be involved in the pathogenesis of BPES in Japanese patients.
MeSH terms
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Adult
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Aged
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Amino Acid Sequence
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Base Sequence
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Blepharophimosis / genetics*
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Blepharoptosis / congenital
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Blepharoptosis / genetics*
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Child, Preschool
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DNA / genetics
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DNA-Binding Proteins / genetics*
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Eyelids / abnormalities*
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Female
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Forkhead Box Protein L2
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Forkhead Transcription Factors
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Genes, Dominant
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Heterozygote
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Humans
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Japan
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Male
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Molecular Sequence Data
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Pedigree
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Sequence Deletion*
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Syndrome
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Transcription Factors / genetics*
Substances
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DNA-Binding Proteins
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FOXL2 protein, human
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Forkhead Box Protein L2
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Forkhead Transcription Factors
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Transcription Factors
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DNA