Diagnosis of and therapy for hereditary haemorrhagic telangiectasia

摘要

A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) which includes the steps of: obtaining a sample of genomic DNA from a patient or fetus; and determining whether the DNA contains a mutation in a gene encoding endoglin, betaglycan, TGF- beta type I receptor (RI), TGF- beta type II receptor (RII), or TGF- beta /activin type I receptor (TSR-I), such a mutation being an indication that the patient or fetus bears a gene making the patient or fetus susceptible to HHT.