title: A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.
abstract: OBJECTIVE
  To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University medical center.
  
  
  METHODS
  A 28-year-old woman.
  
  
  METHODS
  Clinical evaluation, hormone assays, gene mutation research.
  
  
  METHODS
  FOXL2 gene mutation.
  
  
  RESULTS
  The patient with hypergonadotropic hypogonadism was diagnosed with BPES due to a new FOXL2 gene mutation.
  
  
  CONCLUSIONS
  Blepharophimosis-ptosis-epicanthus inversus syndrome is a rare disorder associated with premature ovarian failure (POF). The syndrome is an autosomal dominant trait that causes eyelid malformations and POF in affected women. Mutations in FOXL2 gene, located in chromosome 3, are related to the development of BPES with POF (BPES type I) or without POF (BPES type II). This report demonstrates a previously undescribed de novo mutation in the FOXL2 gene-a thymidine deletion, c.627delT (g.864delT)-in a woman with a sporadic case of BPES and POF. This mutation leads to truncated protein production that is related to a BPES type I phenotype. This report shows the importance of family history and genetic analysis in the evaluation of patients with POF and corroborates the relationship between mutations on the FOXL2 gene and ovarian insufficiency.
authors.affiliation: Department of Obstetrics and Gynecology, Catholic University of Brasilia, Brasília Federal District, Brazil. fredericoj@pos.ucb.br
authors.forename: Frederico José Silva
authors.initials: FJ
authors.lastname: Corrêa
authors.forename: Adriano Bueno
authors.initials: AB
authors.lastname: Tavares
authors.forename: Rinaldo Wellerson
authors.initials: RW
authors.lastname: Pereira
authors.forename: Mauricio Simões
authors.initials: MS
authors.lastname: Abrão
mesh_terms: D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005143:Eyelids / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors