CDH1 and cleft lip: However, as c.88C>A has been identified in unrelated cleft lip with or without cleft palate cases, and has been shown to cause defects in E-cadherin protein function and its subcellular localisation in vitro, it is plausible that the c.88C>A mutation has a deleterious effect on E-cadherin function in vivo and may represent a mutation with a low to moderate risk of disease.