Genetic heterogeneity in hereditary haemorrhagic telangiectasia

J Med Genet. 1994 Dec;31(12):925-6. doi: 10.1136/jmg.31.12.925.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 9
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Telangiectasia, Hereditary Hemorrhagic / genetics*