Article Text

Download PDFPDF

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
  1. M E Porteous,
  2. A Curtis,
  3. O Williams,
  4. D Marchuk,
  5. S S Bhattacharya,
  6. J Burn
  1. Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.


    A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.