title: A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
abstract: Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids. We herein report a 12-year-old girl with BPES who had bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures. Mutation analysis revealed the insertion of a cytosine (dup 1036C) within a wild-type run of six cytosines. A comparison of the phenotypic outcomes of the previously described mutations and the dup 1036C mutation reported herein suggest that the outcome is largely dependent on the involvement of the polyalanine tract (residues 221 to 231). We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@med.keio.ac.jp
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Sato
authors.forename: Nobutake
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D003596:Cytosine / Q000378:metabolism; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics*; D005143:Eyelids / Q000254:growth & development* / Q000378:metabolism; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D009154:Mutation; D010053:Ovary / Q000254:growth & development* / Q000378:metabolism; D010375:Pedigree; D010455:Peptides / Q000378:metabolism; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine; D003596:Cytosine