Case 1103: The two variants in trans in the VPS53 gene (NM_018289.3) a c.1429 C > T (p.Arg477*) and a c.1716 T > G (p.Ser572Arg), are associated with Pontocerebellar hypoplasia, type 2E. Here, VPS53 is linked to progressive cerebello-cerebral atrophy.