- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hulková, H., Cervenková, M., Ledvinová, J., Tochácková, M., Hrebícek, M., Poupetová, H., Befekadu, A., Berná, L., Paton, B.C., Harzer, K., Böör, A., Smíd, F., Elleder, M. Hum. Mol. Genet. (2001)