title: Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.
abstract: OBJECTIVE
  To determine the genetic origin of disease in four Chinese families with blepharophimosis syndrome.
  
  
  METHODS
  Four Han Chinese families with blepharophimosis syndrome were ascertained and patients underwent complete physical and ophthalmic examinations. Blood samples were collected and genomic DNA was extracted. Sequence analysis of the forkhead transcriptional factor 2 (FOXL2) gene was performed by direct sequencing and mutations were analyzed.
  
  
  RESULTS
  Three mutations in FOXL2 were found in four families, including c.672_701dup30 (p.Ala224_Ala234dup10), c.313C>A (p.N105H), and c.430G>T (p.R144W). The c.672_701dup30 (p.Ala224_Ala234dup10) mutation was reported previously and predicted to result in expansions of the polyalanine tract. The mutations of c.313C>A (p. N105H) and c.430G>T (p.R144W) are two novel missense mutations.
  
  
  CONCLUSIONS
  Our study further supports the view that the expansion of the polyalanine tract is the hotspot of mutations within FOXL2. The two novel missense mutations detected in this study will expand the mutation spectrum of the FOXL2 gene and contribute to the research on the molecular pathogenesis of FOXL2.
authors.affiliation: Henan Eye Institute, Henan Eye Hospital, Henan, People's Republic of China ; Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
authors.forename: Ruifang
authors.initials: R
authors.lastname: Han
authors.forename: Lifang
authors.initials: L
authors.lastname: Guan
authors.forename: Baohong
authors.initials: B
authors.lastname: Fan
authors.forename: Mingmei
authors.initials: M
authors.lastname: Liu
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.forename: Hao
authors.initials: H
authors.lastname: Peng
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; 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 / Q000737:chemistry / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016415:Sequence Alignment; D012868:Skin Abnormalities / Q000235:genetics*; D014564:Urogenital Abnormalities
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors