RT Journal Article
SR Electronic
T1 Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 933
OP 936
DO 10.1136/jmg.31.12.933
VO 31
IS 12
A1 P Heutink
A1 T Haitjema
A1 G J Breedveld
A1 B Janssen
A1 L A Sandkuijl
A1 C J Bontekoe
A1 C J Westerman
A1 B A Oostra
YR 1994
UL http://jmg.bmj.com/content/31/12/933.abstract
AB Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with unknown pathophysiology that is characterised by arteriovenous lesions and recurrent haemorrhage in virtually every organ. Linkage of HHT to markers on chromosome 9q has recently been reported. In this study we report confirmation of this localisation in three unrelated families of Dutch origin. A fourth unrelated HHT family, in which considerably fewer pulmonary arteriovenous malformations (PAVM) were present, yielded evidence for non-linkage to this region. We conclude that HHT is a genetically heterogeneous disorder and our results indicate that the presence of PAVM may be more common in patients with a chromosome 9 linked form of HHT than in patients with the non-linked form.