title: [Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
abstract: OBJECTIVE
  To analyse mutational points of FOXL2 gene in 5 Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and to predict structural changes of the mutational FOXL2 protein. So as to improve the diagnostic accuracy of this kind of disease.
  
  
  METHODS
  Five milliliter samples of peripheral venous blood were collected from the patients.Genomic DNA was extracted from each sample. Three pairs of PCR primers which were used to amplify the exon of FOXL2 gene were designed. After PCR process, the products were analyzed by direct genomic sequencing.
  
  
  RESULTS
  The same c. 672_701dup30 (p. Ala224_Ala234dup) heterozygous mutation was detected from two different families. c.655C > T (p.Q219X), c.370 A > G (p. K124E) and c.858_874dup17 (p.P292fs) heterozygous mutations were detected from the other 3 sporadic cases.
  
  
  CONCLUSIONS
  Two novel heterozygous mutations in FOXL2 (c.370A > G, c.858_874dup17) which were detected from Chinese BPES patients expand the worldwide mutational spectrum of FOXL2 gene. Being detected from two different families we confirm c. 672_701dup30 heterozygous mutation as a mutation hotspot in China.
authors.affiliation: Eye Center of the Second Affiliated Hospital, Medical College of Zhejiang University, Hangzhou 310009, China. yejuan_99@yahoo.com.cn
authors.forename: Juan
authors.initials: J
authors.lastname: Ye
authors.forename: Xin
authors.initials: X
authors.lastname: Shi
authors.forename: Jin-jing
authors.initials: JJ
authors.lastname: He
authors.forename: Hui-na
authors.initials: HN
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors