Glypican 1 gene: good candidate for brachydactyly type E

Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266.


In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 2 / genetics
  • Family Health
  • Female
  • Fingers / abnormalities*
  • Genetic Predisposition to Disease / genetics*
  • Hand Deformities / complications
  • Hand Deformities / genetics
  • Heparan Sulfate Proteoglycans / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / complications
  • Male
  • Middle Aged


  • Heparan Sulfate Proteoglycans