Examples of such genes include: PTEN in which mutations cause many different disorders including macrocephaly/autism syndrome (OMIM #605309); VPS13B whose mutations cause Cohen syndrome characterized by truncal obesity, joint hypermobility and a pigmentary retinopathy (COH1; OMIM #216550); CIDEA (OMIM 604440) with a role in regulating energy balance and adiposity; ULK4 crucial to brain development with CNVs being identified as risk factor in schizophrenia [46]; KATNAL2 implicated as susceptibility gene of autism [47]. The gene discussed is KATNAL2; the disease is Pigmentary retinopathy.