title: A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.
abstract: OBJECTIVE
  A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). A clinical and molecular characterization of a patient with BPES type I was performed.
  
  
  METHODS
  We present a 16-year-old adolescent girl with surgically treated blepharophimosis, ptosis, and epicanthus inversus that was associated with delayed puberty and secondary amenorrhea at the age of 15, indicators that suggested that the patient had BPES type I. The FOXL2 gene was analyzed by sequencing its coding region.
  
  
  RESULTS
  The sequence analysis of the FOXL2 gene revealed a novel heterozygous mutation: an 11 bp duplication (c.901_911dup11) that was predicted to encode a truncated protein (p.Pro305Argfs*54).
  
  
  CONCLUSIONS
  A novel out-of-frame duplication following the polyalanine domain in the FOXL2 gene was identified in a Chilean patient with BPES type I. This study characterized the molecular alterations in FOXL2 and confirmed the diagnosis, thereby providing information to allow for improved genetic counseling for the patient and her family.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martinez-Aguayo
authors.forename: Helena
authors.initials: H
authors.lastname: Poggi
authors.forename: Andreina
authors.initials: A
authors.lastname: Cattani
authors.forename: Marcela
authors.initials: M
authors.lastname: Molina
authors.forename: Eliana
authors.initials: E
authors.lastname: Romeo
authors.forename: Marcela
authors.initials: M
authors.lastname: Lagos
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics*; D002677:Chile; D004247:DNA / Q000235:genetics; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D012868:Skin Abnormalities / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000235:genetics*
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D004247:DNA