Importantly, a pathogenic frameshift variant was identified in ENG (on chromosome 9), in a member of the HHT3 family where the HHT gene was previously reported by linkage studies to map to chromosome 5.10 The ENG variant was not present in DNA from all family members designated as affected in the earlier linkage analyses, where affected diagnoses had required three Curaçao criteria (at a minimum, recurrent nosebleeds, telangiectasia at the characteristic sites and an affected first-degree family member). The gene discussed is ENG; the disease is Telangiectasia.