Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy


Senderek J., Krieger M., Stendel C., Bergmann C., Moser M., Breitbach-Faller N., ...More

NATURE GENETICS, vol.37, no.12, pp.1312-1314, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 12
  • Publication Date: 2005
  • Doi Number: 10.1038/ng1678
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1312-1314
  • Hacettepe University Affiliated: No

Abstract

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-Sjogren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.