A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

Hum Mol Genet. 1995 May;4(5):945-9. doi: 10.1093/hmg/4.5.945.


Hereditary haemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant vascular disorder which associates epistaxis, mucocutaneous and visceral telangiectases, and recurrent haemorrhage with chronic anaemia and visceral shuntings. Recently, the tumour growth factor (TGF)-beta binding protein endoglin localized to 9q33-34 was identified as responsible for HHT in several large kindreds with pulmonary arteriovenous malformations (PAVMs). Additional linkage studies demonstrated that HHT is a genetically heterogeneous disorder with families unlinked to this region of 9q. In the families in which HHT was not linked to chromosome 9, less PAVMs were present. Furthermore, in one of these families, HHT was found linked to 3p22, where the TGF-beta II receptor is located. In this linkage study, we have analysed DNA from two families, in which HHT was unlinked to chromosome 9q and 3p, and PAVMs were absent, with a series of genetic markers on the centromeric region of chromosome 12. Using two-point linkage analysis, a significant lod score of Zmax = 7.86 at theta = 0.05 was obtained with the D12S85 microsatellite marker.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 12*
  • Endoglin
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Pedigree
  • Polymerase Chain Reaction
  • Receptors, Cell Surface
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Telangiectasia, Hereditary Hemorrhagic / metabolism
  • Transforming Growth Factor beta / metabolism
  • Vascular Cell Adhesion Molecule-1*


  • Antigens, CD
  • ENG protein, human
  • Endoglin
  • Genetic Markers
  • Membrane Glycoproteins
  • Receptors, Cell Surface
  • Transforming Growth Factor beta
  • Vascular Cell Adhesion Molecule-1