Refined genetic and physical mapping of BPES type II

Eur J Hum Genet. 1996;4(1):34-8. doi: 10.1159/000472167.


BPES is a genetic disorder including blepharophimosis, ptosis of the eyelids, epicanthus inversus and telecanthus. Type I is associated with female infertility, whereas type II presents without other symptoms. Both types I and II occur sporadically or are inherited as an autosomal dominant trait. We present a molecular genetic and cytogenetic study in a large four-generation Belgian family with BPES type II. Karyotype analysis on high-resolution banded chromosomes yielded normal results. Fluorescence in situ hybridization (FISH) with cosmid probes spanning 3q22-q24 revealed normal hybridization patterns. Sixteen polymorphic CA repeats encompassing region 3q13-q25 were analysed. Linkage analysis in this large four-generation family provides conclusive evidence for the presence of a BPES gene in this region. Two-point lod scores greater than 3.0 between the disease and the following markers were seen: D3S1589 (4.67), D3S1292 (3.52), D3S1290 (3.59) and D3S1549 (3.65). By FISH, D3S1290, D3S1292 and D3S1549 were assigned to chromosome 3q23 using YACs positive for these markers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Belgium
  • Blepharophimosis / classification
  • Blepharophimosis / genetics*
  • Chromosome Banding
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 3*
  • Dinucleotide Repeats / genetics
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Retinol-Binding Proteins / genetics
  • Syndrome


  • Genetic Markers
  • Retinol-Binding Proteins