Even more interestingly, Doug Marchuk’s team has recently identified low-frequency somatic mutations in 9/19 human telangiectasias analyzed by deep sequencing and has confirmed on 7 samples that the germline and somatic mutations exist in trans configuration, resulting in a biallelic loss of either the ENG or the ACVRL1 gene [32]. The gene discussed is ENG; the disease is Telangiectasia.