Among them, the NM_000308.4(CTSA):c.990dupC p.(Cys331Leufs*56) variant has been identified in compound heterozygosity with the NM_000308.4(CTSA):c.753_755del p.(Asn251del) variant, that at present is classified as VUS; considering that CTSA is associated with Galactosialidosis (MIM: # 256540), which is an autosomal recessive disease, we deemed this finding as disease-causing [35]. This evidence concerns the gene CTSA and autosomal recessive disease.