El-Harith et al., (2006) described a multi-generation Saudi family in which several individuals were affected with HHT Type 2.  Consanguinity was frequently present.  In total, 95 individuals provided their consent to participate in the study, of which 51 individuals met the criteria for probable or definite diagnosis of HHT.  Molecular testing identified a heterozygous (p.Q490X) mutation in the ACVRL1 gene.  El-Harith et al., (2006) indicated that they found the mutation in three healthy individuals in addition to the affected ones. This could be explained by the fact that they are still at a young age (3, 4 and 11 years) and HHT could manifest in adulthood.  The authors also found that 11 individuals lacked the mutation despite having epistaxis.  Re-evaluation of the 11 cases revealed that nine of them did not have HHT.  Therefore, the authors concluded that the frequent observation of epistaxis in non-Q490X carriers seemed to be a phenocopy rather than a symptom of HHT.