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Brief Communication

Nature Genetics 37, 1309–1311 (1 December 2005) | doi:10.1038/ng1677

The gene disrupted in Marinesco-Sj|[ouml]|gren syndrome encodes SIL1, an HSPA5 cochaperone

Anna-Kaisa Anttonen , Ibrahim Mahjneh , Riikka H H|[auml]|m|[auml]|l|[auml]|inen , Clotilde Lagier-Tourenne , Outi Kopra , Laura Waris , Mikko Anttonen , Tarja Joensuu , Hannu Kalimo , Anders Paetau , Lisbeth Tranebjaerg , Denys Chaigne , Michel Koenig , Orvar Eeg-Olofsson , Bjarne Udd , Mirja Somer , Hannu Somer & Anna-Elina Lehesjoki

We identified the gene underlying Marinesco-Sj|[ouml]|gren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5.