SIL1 mutations and clinical spectrum in patients with Marinesco- Sjögren syndrome

Brain

Volumn 136, Issue 12, 2013, Pages 3634-3644

  Krieger, Michael ^a   Roos, Andreas ^a   Stendel, Claudia ^b   Claeys, Kristl G ^a,b   Sonmez, Fatma Mujgan ^c   Baudis, Michael ^d,e   Bauer, Peter ^f   Bornemann, Antje ^f   De Goede, Christian ^g   Dufke, Andreas ^f   Finkel, Richard S ^h   Goebel, Hans H ⁱ   Häussler, Martin ^j   Kingston, Helen ^k   Kirschner, Janbernd ^l   Medne, Livija ^m   Muschke, Petra ⁿ   Rivier, François ^o,p   Rudnik Schöneborn, Sabine ^a   Spengler, Sabrina ^a   Inzana, Francesca ^q   Stanzial, Franco ^q   Benedicenti, Francesco ^q   Synofzik, Matthis ^r,s   Taratuto, Ana Lia ^t   Pirra, Laura ^u   Tay, Stacey Kiat Hong ^v   Topaloglu, Haluk ^w   Uyanik, Gökhan ^x   Wand, Dorothea ^y   Williams, Denise ^z   Zerres, Klaus ^a   Weis, Joachim ^a   Senderek, Jan ^aa   more..

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c TURGUT OZAL UNIVERSITY   (Turkey)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^f UNIVERSITY OF TÜBINGEN   (Germany)

^g ROYAL PRESTON HOSPITAL   (United Kingdom)

^h NEMOURS CHILDREN S HOSPITAL   (United States)

ⁱ JOHANNES GUTENBERG UNIVERSITY   (Germany)

^j UNIVERSITY OF WÜRZBURG   (Germany)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l UNIVERSITY OF FREIBURG   (Germany)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁿ OTTO VON GUERICKE UNIVERSITY   (Germany)

^o MONTPELLIER UNIVERSITY HOSPITAL   (France)

^p INSERM   (France)

^q CENTRAL HOSPITAL OF BOLZANO   (Italy)

^r UNIVERSITY OF TÜBINGEN   (Germany)

^s GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^t FLENI   (Argentina)

^u HOSPITAL UNIVERSITARIO FUNDACIÓN FAVALORO   (Argentina)

^v NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^w Ihsan Dogramaci Children's Hospital   (Turkey)

^x HANUSCH HOSPITAL   (Austria)

^y MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^z BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^aa LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

Ataxia; Cataract; Marinesco Sj gren syndrome; Myopathy; SIL1 mutation

Indexed keywords

CHAPERONE; SIL1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BODY GROWTH; CELL CULTURE; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; CONGENITAL CATARACT; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; LYMPHOBLAST; MAJOR CLINICAL STUDY; MALE; MARINESCO SJOGREN SYNDROME; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION;

EID: 84890589571     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt283     Document Type: Article

References (50)

1. Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, et al. SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. Clin Genet 2007; 71: 288-9.
2. Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, et al. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 2005; 37: 1309-11.
3. Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, et al. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet 2008; 16: 961-9.
4. Begeer JH, Scholte FA, van Essen AJ. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 1991; 28: 884-5.
5. Berg K, Skre H. Possible linkage between the Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism. Cytogenet Cell Genet 1976; 16: 271-4.
6. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Eng J Med 1984; 311: 1649-52.
7. Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005; 77: 477-83.
8. Brogdon BG, Snow RD, Williams JP. Skeletal findings in Marinesco-Sjogren syndrome. Skeletal Radiol 1996; 25: 461-5.
9. Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 1991; 266: 7779-83.
10. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012; 4: 118ra10.
11. Chaco J. Marinesco-Sjögren syndrome with myopathy. Confin Neurol 1969; 31: 349-51.
12. Chung KT, Shen Y, Hendershot LM. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. J Biol Chem 2002; 277: 47557-63.
13. Eklund EA, Freeze HH. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx 2006; 3: 254-63.
14. Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. J Neurol Sci 2008; 270: 197-200.
15. Georgy BA, Snow RD, Brogdon BG, Wertelecki W. Neuroradiologic findings in Marinesco-Sjögren syndrome. AJNR Am J Neuroradiol 1998; 19: 281-3.
16. Haas IG, Wabl M. Immunoglobulin heavy chain binding protein. Nature 1983; 306: 387-9.
17. Hayabara T, Yabuki S, Ikeda H, Otsuki S. A case of oligophrenic cerebello-lental degeneration associated with vascular hypertension and gynecomastia. Rinsho Shinkeigaku 1975; 15: 110-5.
18. Hendershot LM. The ER function BiP is a master regulator of ER function. Mt Sinai J Med 2004; 71: 289-97.
19. Herva R, von Wendt L, von Wendt G, Saukkonen AL, Leisti J, Dubowitz V. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics 1987; 18: 164-9.
20. Howes J, Shimizu Y, Feige MJ, Hendershot LM. C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome. J Biol Chem 2012; 287: 8552-60.
21. Ishikawa T, Kitoh H, Awaya A, Nonaka I. Rapid cataract formation in Marinesco-Sjögren syndrome. Pediatr Neurol 1993; 9: 407-8.
22. Karim MA, Parsian AJ, Cleves MA, Bracey J, Elsayed MS, Elsobky E, et al. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree. Clin Genet 2006; 70: 420-3.
23. Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, et al. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. J Med Genet 2002; 39: 838-43.
24. Mahloudji M, Amirhakimi GH, Haghighi P, Khodadoust AA. Marinesco-Sjögren syndrome. Report of an autopsy. Brain 1972; 95: 675-80.
25. Marinesco G, Draganescu S, Vasiliu D. Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somato-neuro-psychique. L'encéphale 1931; 26: 97-109.
26. Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 2012; 90: 314-20.
27. Moravcsik EE. Friedreich'sche hereditaere Ataxie. Orvosi Hetilap 1904; 25.
28. Müller K. Das Marinesco-Sjögren-Syndrom: spinocerebellare Ataxie mit Katarakt und Oligophrenie. Z Kinderheilkd 1962; 87: 348-55.
29. Munro S, Pelham HR. An Hsp70-like protein in the ER: identity with the 78 kd glucose-regulated protein and immunoglobulin heavy chain binding protein. Cell 1986; 46: 291-300.
30. Muntoni F, Torelli S, Wells DJ, Brown SC. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 2011; 24: 437-42.
31. Riazuddin SA, Amiri-Kordestani L, Kaul H, Butt T, Jiao X, Riazuddin S, et al. Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Mol Vis 2009; 15: 1050-6.
32. Schapira AH. Mitochondrial disease. Lancet 2006; 368: 70-82.
33. Schurig V, Van Orman A, Bowen P. Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 1981; 9: 43-53.
34. Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, et al. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005; 37: 1312-4.
35. Sewry CA, Voit T, Dubowitz V. Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome. Ann Neurol 1988; 24: 576-80.
36. Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confin Neurol 1947; 10: 293-308.
37. Skre H, Berg K. Linkage studies on Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism. Clin Genet 1977; 11: 57-66.
38. Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, et al. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. J Hum Genet 2010; 55: 142-6.
39. Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, et al. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J Paediatr Neurol 2012; 16: 248-56.
40. Todorov A. Marinesco-Sjogren syndrome. 1st anatomo-clinical study. J Genet Hum 1965; 14: 197-233.
41. Tohda H, Oikawa A, Kudo T, Tachibana T. A greatly simplified method of establishing B-lymphoblastoid cell lines. Cancer Res 1978; 38: 3560-2.
42. Tyson JR, Stirling CJ. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. EMBO J 2000; 19: 6440-52.
43. Van Bogaert L, Scherer HJ, Epstein E. Une forme cerebrale de la cholesterinose generalisee. Paris: Masson et Cie; 1937.
44. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003; 35: 185-9.
45. Weis J, Schröder JM. Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 1988; 7: 271-9.
46. Weis J, Schröder JM. Differential effects of nerve, muscle, and fat tissue on regenerating nerve fibers in vivo. Muscle Nerve 1989; 12: 723-34.
47. Wilke K, Duman B, Horst J. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 2000; 16: 431-6.
48. Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet 2005; 37: 974-9.
49. Zhao L, Rosales C, Seburn K, Ron D, Ackerman SL. Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome. Hum Mol Genet 2010; 19: 25-35.
50. Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, et al. Ataxiatelangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum Genet 1992; 88: 619-26.