title: [Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
abstract: OBJECTIVE
  To identify the genetic mutation in two Chinese families and 6 sporadic patients with belpharophimosis-ptosis-epicanthus inversus syndrome (BPES).
  
  
  METHODS
  Polymorphisms of 5 satellite markers on 3q were analyzed and linkage analysis was performed using linkage software (MLINK) in all cases of two families. FOXL2 gene fragments were amplified by PCR and mutation was determined by sequencing DNA fragments in all patients.
  
  
  RESULTS
  The BPES locus in the pedigrees was mapped to 3q23, a 9.88 cM interval between markers D3S3696 and D3S1744. The maximum lod scores were 2.11 (theta = 0.00) at D3S1549 and D3S3586 and 1.51 (theta = 0.00) at D3S1764. By direct sequencing FOXL2 gene, two sporadic cases had a 30-bp in frame duplication 909 - 938 dup 30 and one sporadic case showed a nucleotide insertion 1041 - 1042 ins C. However, it was unable to find any causal mutation of FOXL2 in two families with BPES.
  
  
  CONCLUSIONS
  The gene responsible for BPES in two Chinese families was linked to D3S1549, D3S3586 and D3S1764. This is the first reported mutations of FOXL2 (909 - 938 dup 30 and 1041 - 1042 ins C) in Chinese sporadic cases. One of the mutations, in-frame 30-bp duplication (909 - 938 dup 30), is one of the most common mutation hotspots in the coding region of FOXL2. In BPES families without FOXL2 mutation, it cannot be excluded that the disorder is caused by a position effect in the surrounding region of FOXL2 gene or by other genes located at 3q23.
authors.affiliation: Department of Ophthalmology, Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China. qi_yanhua@yahoo.com
authors.forename: Yan-hua
authors.initials: YH
authors.lastname: Qi
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Lin
authors.forename: Hong-yan
authors.initials: HY
authors.lastname: Jia
authors.forename: Hong
authors.initials: H
authors.lastname: Su
authors.forename: Jing-zhi
authors.initials: JZ
authors.lastname: Gu
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
authors.forename: Ya-ping
authors.initials: YP
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002681:China; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors