BRAIN A JOURNAL OF NEUROLOGY SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
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چکیده
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome Michael Krieger, Andreas Roos, Claudia Stendel, Kristl G. Claeys, Fatma Mujgan Sonmez, Michael Baudis, Peter Bauer, Antje Bornemann, Christian de Goede, Andreas Dufke, Richard S. Finkel, Hans H. Goebel, Martin Häussler, Helen Kingston, Janbernd Kirschner, Livija Medne, Petra Muschke, François Rivier, Sabine Rudnik-Schöneborn, Sabrina Spengler, Francesca Inzana, Franco Stanzial, Francesco Benedicenti, Matthis Synofzik, Ana Lia Taratuto, Laura Pirra, Stacey Kiat-Hong Tay, Haluk Topaloglu, Gökhan Uyanik, Dorothea Wand, Denise Williams, Klaus Zerres, Joachim Weis and Jan Senderek
منابع مشابه
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describ...
متن کاملPhenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Marinesco-Sjögren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigation...
متن کاملA nationwide survey on Marinesco-Sjögren syndrome in Japan
BACKGROUND Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are not yet fully understood. METHODS We conducted a nationwide, questionnaire-...
متن کاملC-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
Marinesco-Sjögren syndrome (MSS) is an autosomal recessive, neurodegenerative, multisystem disorder characterized by severe phenotypes developing in infancy. Recently, mutations in the endoplasmic reticulum (ER)-associated co-chaperone SIL1/BAP were identified to be the major cause of MSS. SIL1 acts as a nucleotide exchange factor for BiP, the ER Hsp70 orthologue, which plays an essential role ...
متن کاملSIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 mutations in abnormal corticogenesis of MSS. SIL1-silencing caused neuronal migrat...
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