title: FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
abstract: BACKGROUND
  Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (FOXL2) gene, a member of winged/forkhead transcription factor family, are responsible for both types of BPES. The purpose of this study was to identify mutations in FOXL2 in Taiwanese patients with BPES.
  
  
  METHODS
  The karyotype and genomic DNA was prepared from the leukocytes of peripheral venous blood samples. The coding and flanking region sequences of FOXL2 were analyzed by directed or cloning sequencing.
  
  
  RESULTS
  The karyotypes of these patients did not show significant variation, especially on the 3q23 region. Two mutations in FOXL2 were identified in two familial cases. One was c.855-871dup (17-bp insertion) associated with POF. The other was c.384G>A (TGG>TGA), a novel mutation that resulted in non-sense changes of the encoded protein, i.e., p.W128X.
  
  
  CONCLUSIONS
  Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2 in Taiwanese BPES patients.
authors.affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Chou
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.forename: Yushin
authors.initials: Y
authors.lastname: Tsai
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013624:Taiwan
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors