Recently, the MSS phenotypes have been found to be caused by mutations in the SIL1 gene on chromosome 5q31, resulting in loss of SIL1 function due to premature termination of translation, abnormal splicing of the transcript or single amino acid substitution (Anttonen et al, 2005, 2008; Senderek et al, 2005; Karim et al, 2006; Eriguchi et al, 2008; Riazuddin et al, 2009; Takahata et al, 2010). The gene discussed is SIL1; the disease is Marinesco-Sjogren syndrome.