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Researchers have identified mutations in a gene, SIL1, that causes many cases of MSS. SIL1 is located on chromosome 5 and plays a role in protein folding. Recent publications by two teams have identified more than a dozen mutations of SIL1 that cause MSS in several large family groups and isolated cases worldwide.MSS Gene Identified Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. More about the Sil1 gene in our newsletters: What the gene discovery means to patients and families
in our Fall 2005 MSS
newsletter.
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