NFIX and Marinesco-Sjogren syndrome: Therefore, increased expression of VCAM1 due to MSS-associated NFIX mutations may potentially contribute to CNS and bone abnormalities as well as other anomalies such as renal cysts, nephrocalcinosis, hydronephrosis, congestion of the liver and spleen, cardiomegaly, right ventricular hypertrophy and heart failure,1,11,40,41 which are reported in MSS patients.22