A recent paper by Nicolle et al. describes a variant in the 5′UTR of RARS2 (NM_020320.5:c.2T > C) which alters the Kozak sequence of the CDS start codon, reducing protein production and causing pontocerebellar hypoplasia (PCH) [52]. The gene discussed is RARS2; the disease is pontocerebellar hypoplasia.