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GENATLAS PHENOTYPE
last update : 24/09/2011
Symbol BPES
Location 3q22.3
Name blepharophimosis, ptosis and epicanthus inversus
Corresponding gene FOXL2
Main clinical features
  • blepharophimosis, epicanthus inversus and ptosis with (type II) / without (type I) premature ovarian failure, with absence or hypotrophy of the muscle superior levator, associated in any cases to a bilateral Duane syndrome
  • combined in some cases with ovarian failure (BPES type II)
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries DEL3Q2, POF3
    Function/system disorder eye
    endocrinology
    Type malformation
    Gene product
    Name FOXL2, forkhead box L2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   abnormal protein/loss of function expansion from 14 to 24 residues in 30 p100 of the mutations leading to mislocalized protein
      translocation   translocation breakpoints upstream of FOXL2 suggesting a position effet
      deletion haploinsufficiency microdeletions upstream of FOXL2 in conserved nongenic sequences(CNG)
    deletion     deletion of the polyAla tract induces a significant intranuclear aggregation
      deletion haploinsufficiency cytogenetically visible interstitial deletions encompassing FOXL2
    insertion-deletion     indel mutation c.50C→TA in the sporadic case in Chinese BPES patients (PMID:21321671)
    deletion   absent protein de novo mutation in Chinese BPES patients (PMID:21321671)
    Remark(s) . missense mutations in the FH domain of FOXL2 lead to mislocalization, protein aggregation and altered transactivation
  • expansions to 24 or 26 alanines induce a dominant phenotype (FOXL2-Ala24/Ala26), whereas expansion to 19 leads to a recessive form
    • Genotype/Phenotype correlations
  • see DEL3Q2 for cytogenetically visible interstitial deletions
  • A224-234 dup within the polyalanine tract in form associated to Duane syndrome