Second, Doherty and colleagues reported in COACH syndrome patients (UW52-3 and UW52-4) a mutation (p.Gly934GlyfsX26) in the G934 residue that is located in the C-terminal region of TMEM67, where the mutation we identified, p.Tyr920ThrfsX40, also resides. This evidence concerns the gene TMEM67 and Joubert syndrome with hepatic defect.