title: FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
abstract: OBJECTIVE
  Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpose of this study is to identify mutations in FOXL2 of Chinese patients with BPES.
  
  
  METHODS
  Genomic DNA was prepared from leucocytes of peripheral venous blood. The coding regions and nearby intron sequences of FOXL2 were analyzed by cycle and cloning sequencing.
  
  
  RESULTS
  Four mutations in FOXL2 were identified in six families, including c.241T>C, c.650C>G, c.804dupC, and c.672_701dup. Of the four, the c.241T>C and c.650C>G were novel and would result in missense changes of the encoded proteins, i.e., p.Tyr81His and p.Ser217Cys, respectively. The c.672_701dup (p.Ala224_Ala234dup) was detected in three families, indicating a mutation hotspot. The c.804dupC (p.Gly269ArgfsX265) mutation was found in one family.
  
  
  CONCLUSIONS
  Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China. wjshuzi_zsu@yahoo.com.cn <wjshuzi_zsu@yahoo.com.cn>
authors.forename: Juan
authors.initials: J
authors.lastname: Wang
authors.forename: Jinling
authors.initials: J
authors.lastname: Liu
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D003545:Cysteine; D003596:Cytosine; D005124:Eye Abnormalities / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006147:Guanine; D006579:Heterozygote; D006639:Histidine; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D012694:Serine; D013577:Syndrome; D013941:Thymine; D014443:Tyrosine
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014443:Tyrosine; D012694:Serine; D006639:Histidine; D006147:Guanine; D003596:Cytosine; D003545:Cysteine; D013941:Thymine