Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus")

J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4. doi: 10.3928/01913913-20140709-04.

Abstract

Blepharophimosis syndrome is a recognizable ocular phenotype (blepharophimosis, telecanthus, ptosis, and epicanthus inversus) caused by heterozygous (dominant) intragenic mutation in FOXL2 (chromosome 3q23), which can also cause premature ovarian failure. A deletion that involves not only FOXL2 but also adjacent genes can result in additional clinical features ("blepharophimosis syndrome plus"). Studies of such patients are useful because observed additional clinical features suggest potential functions of genes adjacent to FOXL2. The authors describe a boy with blepharophimosis syndrome plus from a de novo heterozygous 3q22.3-q24 11.2 Mb microdeletion. Among his additional clinical features was bilateral limitation of abduction and supraduction, which suggests that the deleted area includes a gene responsible for ocular motility.

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / diagnosis
  • Blepharophimosis / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA Mutational Analysis
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Karyotyping
  • Male
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / genetics*
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Urogenital Abnormalities

Substances

  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors

Supplementary concepts

  • Blepharophimosis, Ptosis, and Epicanthus Inversus