Additionally, Lesca et al., 2004 [40] and Bossler et al., 2006 [51] described a splice site acceptor variant c.68-1G > A in the ENG gene, similar to the one identified here (c.68-2A > T) in the two individuals with a clinical diagnosis of HHT. The gene discussed is ENG; the disease is hereditary hemorrhagic telangiectasia.