Notably, LRP2, encoding the multifunctional endocytic receptor megalin, was reported as the major mutation signature in papillary renal cell carcinoma, which was also correlated with renal disease and facio-oculo-acoustico-renal syndrome by inducing the inability of megalin R3192Q to properly discharge ligands and ligand-induced receptor decay in lysosomes [57,58]. Here, LRP2 is linked to Donnai-Barrow syndrome.