Nde-1, the protein product of the centrosomal gene, mutated in microcephaly, has previously been shown to interact with CENP-F.22–26 We, therefore, investigated, by whole exome sequencing, a large cohort of patients (n=1000) with microcephaly (MCPH) for CENPF mutations, where no deleterious or potentially pathogenic variants were identified in known MCPH genes (CEP135, ASPM, WDR62, MCPH1, CEP152, STIL, CEP63 and CENPJ). The gene discussed is ASPM; the disease is autosomal recessive primary microcephaly.