Mutations in PNKP are associated with the human inherited disease microcephaly and seizures (MCSZ), a neurodevelopmental disease (Shen et al., 2010), ataxia oculomotor apraxia 4 (AOA4) (Bras et al., 2015), and Charcot–Marie–Tooth disease (CMT2B2), a neurodegenerative disease (Pedroso et al., 2015). This evidence concerns the gene PNKP and Charcot-Marie-Tooth disease type 2B2.