PNKP and microcephaly: Furthermore, reduced PNKP protein levels caused by a pnkp gene mutation have been found in patients suffering from a disease associated with severe neurological abnormalities, termed microcephaly, early-onset, intractable seizures and developmental delay (MCSZ), and lymphoblasts from these patients were found to be defective in the repair of oxidative DNA damage (Shen et al., 2010).