Furthermore, Costain et al. revealed a homozygous likely pathogenic variant in PRUNE1 (c.521-2A>G: IVS4-2A>G; NM_021222.1), affecting the catalytic DHH domain, in a patient with global developmental delay, infantile spasms, and central hypoventilation without microcephaly [27]. Here, PRUNE1 is linked to microcephaly.