Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family
作者： Rouleau GA Noreau A , La Piana R , Marcoux C , FORGE Canada (including Scherer SW) , Dion PA
DOI: 10.1007/S10048-015-0455-Z
关键词: Pediatrics 、 Medicine 、 Global developmental delay 、 Ataxia 、 Cerebellar ataxia 、 Neurogenetics 、 Exome sequencing 、 Atrophy 、 Cerebellar atrophy 、 Bioinformatics 、 Ataxic Gait
摘要: Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared healthy father. We identified mutations SIL1 gene, which is reported cause Marinesco-Sjogren syndrome. This study emphasizes how diagnosis of patients ataxic gait atrophy may benefit WES condition.
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Suman Jayadev, Thomas D. Bird, Hereditary ataxias: overview Genetics in Medicine. ,vol. 15, pp. 673- 683 ,(2013) , 10.1038/GIM.2013.28
M. Anheim, M. Fleury, B. Monga, V. Laugel, D. Chaigne, G. Rodier, E. Ginglinger, C. Boulay, S. Courtois, N. Drouot, M. Fritsch, J. P. Delaunoy, D. Stoppa-Lyonnet, C. Tranchant, M. Koenig, Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management Neurogenetics. ,vol. 11, pp. 1- 12 ,(2010) , 10.1007/S10048-009-0196-Y
Lihong Zhao, Chantal Longo-Guess, Belinda S Harris, Jeong-Woong Lee, Susan L Ackerman, Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP Nature Genetics. ,vol. 37, pp. 974- 979 ,(2005) , 10.1038/NG1620
M. Horvers, A.K. Anttonen, A.E. Lehesjoki, E. Morava, S. Wortmann, S. Vermeer, B.P. van de Warrenburg, M.A. Willemsen, Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype. European Journal of Paediatric Neurology. ,vol. 17, pp. 199- 203 ,(2013) , 10.1016/J.EJPN.2012.09.007
Laurence Martineau, Anne Noreau, Nicolas Dupré, Therapies for Ataxias Current Treatment Options in Neurology. ,vol. 16, pp. 300- ,(2014) , 10.1007/S11940-014-0300-Y
Leslie G. Biesecker, Robert C. Green, Diagnostic Clinical Genome and Exome Sequencing The New England Journal of Medicine. ,vol. 370, pp. 2418- 2425 ,(2014) , 10.1056/NEJMRA1312543
BPC Van de Warrenburg, J Van Gaalen, S Boesch, J‐M Burgunder, A Dürr, P Giunti, T Klockgether, Christian Mariotti, Massimo Pandolfo, Olaf Riess, None, EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. European Journal of Neurology. ,vol. 21, pp. 552- 562 ,(2014) , 10.1111/ENE.12341
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, Jan Senderek, SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome Brain. ,vol. 136, pp. 3634- 3644 ,(2013) , 10.1093/BRAIN/AWT283
C Lagier-Tourenne, L Tranebjærg, D Chaigne, M Gribaa, H Dollfus, G Silvestri, C Bétard, J M Warter, M Koenig, Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. European Journal of Human Genetics. ,vol. 11, pp. 770- 778 ,(2003) , 10.1038/SJ.EJHG.5201068
Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, 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, The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone Nature Genetics. ,vol. 37, pp. 1309- 1311 ,(2005) , 10.1038/NG1677