MSS-associated SIL1 mutations are thought to cause functional defects of SIL1 to various degrees that reflect the variety of clinical symptoms in MSS patients (Senderek et al, 2005; Anttonen et al, 2008; Eriguchi et al, 2008; Riazuddin et al, 2009; Takahata et al, 2010; Howes et al, 2012). This evidence concerns the gene SIL1 and Marinesco-Sjogren syndrome.