Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x.

Abstract

The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharophimosis / genetics*
  • Blepharophimosis / pathology
  • Blepharoptosis / genetics*
  • Blepharoptosis / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Facial Muscles / pathology*
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Transcription Factors