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MSS Gene Identified
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.

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.
An update on the Sil1 gene in our Winter 2006 MSS newsletter.