- Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto, E.A., Schermer, B., Obara, T., O'Toole, J.F., Hiller, K.S., Mueller, A.M., Ruf, R.G., Hoefele, J., Beekmann, F., Landau, D., Foreman, J.W., Goodship, J.A., Strachan, T., Kispert, A., Wolf, M.T., Gagnadoux, M.F., Nivet, H., Antignac, C., Walz, G., Drummond, I.A., Benzing, T., Hildebrandt, F. Nat. Genet. (2003)