This suggests that dysfunctional NFIX proteins in MSS may directly increase CRABP2 expression through a reduced ability to suppress CRABP2 promoter activity which in turn results in the activation of the RA pathway, which may then indirectly misregulate VCAM1 expression in a tissue-specific manner, and contribute to the pathology observed in MSS (Figure 5). The gene discussed is VCAM1; the disease is Marinesco-Sjogren syndrome.