Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)

Ophthalmic Genet. 2012 Jun;33(2):107-10. doi: 10.3109/13816810.2011.634879. Epub 2011 Dec 15.


Background: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation between chromosomes 3 and 15: t(3;15)(q23;q25).

Material and methods: Conventional cytogenetic and CGH array were performed.

Results: The karyotype showed an apparently balanced translocation. Molecular studies by array-CGH did not show deletions in the FOXL2 gene; however, a novel 63.2 kb deletion involving a non-protein-coding gene (PISRT1) was found.

Conclusions: The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / genetics*
  • Blepharoptosis / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Comparative Genomic Hybridization*
  • DNA Mutational Analysis
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Karyotype
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • Translocation, Genetic*


  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • PISRT1 non-protein coding RNA, human
  • RNA, Long Noncoding
  • RNA, Untranslated