Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
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.
Porteous
M E
ME
Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
Curtis
A
A
Williams
O
O
Marchuk
D
D
Bhattacharya
S S
SS
Burn
J
J
D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*