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Brief Communication

Nature Genetics 37, 1312–1314 (1 December 2005) | doi:10.1038/ng1678

Mutations in SIL1 cause Marinesco-Sj|[ouml]|gren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek , Michael Krieger , Claudia Stendel , Carsten Bergmann , Markus Moser , Nico Breitbach-Faller , Sabine Rudnik-Sch|[ouml]|neborn , Astrid Blaschek , Nicole I Wolf , Inga Harting , Kathryn North , Janine Smith , Francesco Muntoni , Martin Brockington , Susana Quijano-Roy , Francis Renault , Ralf Herrmann , Linda M Hendershot , J Michael Schr|[ouml]|der , Hanns Lochm|[uuml]|ller , Haluk Topaloglu , Thomas Voit , Joachim Weis , Friedrich Ebinger & Klaus Zerres

SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sj|[ouml]|gren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy.