title: Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
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.
authors.affiliation: Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan. md991012@st.toyama-mpu.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.lastname: Budu
authors.forename: T
authors.initials: T
authors.lastname: Esa
authors.forename: Y
authors.initials: Y
authors.lastname: Hayasaka
authors.forename: M
authors.initials: M
authors.lastname: Endo
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors; D004247:DNA