Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2

M. Piantanida, E. Buscarini, C. Dellavecchia, A. Minelli, A. Rossi, L. Buscarini, C. Danesino

Research output: Contribution to journalArticle

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large pedigree, with an unusually high number of patients with liver vascular malformations, both previously mapped loci have been excluded. The loci for two other inherited vascular malformation diseases, cerebral cavernous malformations and multiple cutaneous and mucosal venous malformations, have also been excluded. Thus we conclude that at least a third, as yet unmapped, HHT locus does exist, possibly associated with high frequency of liver involvement.

Original languageEnglish
Pages (from-to)441-443
Number of pages3
JournalJournal of Medical Genetics
Volume33
Issue number6
Publication statusPublished - 1996

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Keywords

  • Genetic heterogeneity
  • HHT
  • Liver involvement
  • Rendu-Osler-Weber

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Piantanida, M., Buscarini, E., Dellavecchia, C., Minelli, A., Rossi, A., Buscarini, L., & Danesino, C. (1996). Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. Journal of Medical Genetics, 33(6), 441-443.