TGFBI and cerebral creatine deficiency syndrome: Moreover, Morand et al. [22] reported that the mutation p.R555W in TGFBIp triggered apoptosis in human corneal epithelial cells, and suggested that aberrant activation of the α3β1 integrin-related pathway by mutated TGFBIp is part of the pathophysiological process that leads to the TGFBI-related CDs.