title: Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
abstract: OBJECTIVE
  The purpose of this study was to identify the mutation(s) or deletion(s) of the forkhead box protein L2 (FOXL2) gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
  
  
  METHODS
  Genomic DNA extracted from peripheral blood was collected from two Chinese families and from one sporadic case. PCR direct sequencing and quantitative real-time PCR-based copy number screening for the whole exon of FOXL2 were performed.
  
  
  RESULTS
  Direct sequencing revealed an indel mutation c.50C→TA in the sporadic case which resulted in a frameshift generating 78 novel amino acids and terminating prematurely at codon 95. Deletions in the FOXL2 gene were confirmed by quantitative real-time PCR (q-real-time PCR) in two families in which intragenic mutations were excluded by direct sequencing. These changes containing deletions and a de novo mutation were not detected either in the non-carrier relatives or in 100 normal controls.
  
  
  CONCLUSIONS
  This study identified two deletions and a de novo mutation in the FOXL2 gene in Chinese BPES patients. This is the first study to report FOXL2 gene deletions detected by q-real-time PCR in this ethnic group. This technique enriches the diagnostic methods of molecular genetics in BPES patients. The de novo mutation expands the mutation spectrum of FOXL2.
authors.affiliation: Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Hu
authors.forename: Junjing
authors.initials: J
authors.lastname: Guo
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
authors.forename: Guangkai
authors.initials: G
authors.lastname: Zhou
authors.forename: Xuchen
authors.initials: X
authors.lastname: Ding
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000737:chemistry; D016569:Blepharophimosis / Q000208:ethnology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008594:Menopause, Premature / Q000208:ethnology / Q000235:genetics; D008957:Models, Genetic; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012868:Skin Abnormalities / Q000208:ethnology / Q000235:genetics; D013577:Syndrome
chemical_list: D000596:Amino Acids; D003062:Codon; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors