Prompted by the fact POC1A mutations are causative for a phenotype defined by short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome; 22) and short stature is also a recurrent clinical finding in MSS patients, effect of SIL1 expression (wildtype and variant forms) has been studied and highlighted an increasing effect of elevated SIL1 protein level on POC1A protein abundance (Figure 5B). The gene discussed is SIL1; the disease is Marinesco-Sjogren syndrome.