Mutational screening did not identify mutations in CENPF in 12 consanguineous patients with Meckel Grüber syndrome (MKS) who had compatible clinical features, potential autozygous regions and did not have a mutation in known MKS genes and in three patients with isolated nephronophthisis (NPHP) who showed homozygosity by descent at the CENPF locus out of a cohort of 150 families with NPHP or Joubert syndrome (JBTS). The gene discussed is CENPF; the disease is Joubert syndrome.