Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

Human Genetics

Volumn 132, Issue 3, 2013, Pages 275-283

  Karkheiran, Siamak ^a   Krebs, Catharine E ^b   Makarov, Vladimir ^b   Nilipour, Yalda ^c   Hubert, Benjamin ^b   Darvish, Hossein ^d   Frucht, Steven ^b   Shahidi, Gholam Ali ^a   Buxbaum, Joseph D ^b   Paisán Ruiz, Coro ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Toos Hospital   (Iran)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; CLONAZEPAM; COLLAGEN; COLLAGEN TYPE 6A2; PHENOBARBITAL; PIRACETAM; UNCLASSIFIED DRUG; VALPROIC ACID; COL6A2 PROTEIN, HUMAN; COLLAGEN TYPE 6;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; BRAIN CORTEX; CASE REPORT; CONSANGUINITY; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; EMOTIONAL STRESS; EXOME; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; IRAN; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOCLONUS; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SACCADIC EYE MOVEMENT; SEGREGATION ANALYSIS; SEIZURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TENDON REFLEX; TONIC CLONIC SEIZURE; VALIDATION STUDY; CHROMOSOME 21; ELECTROENCEPHALOGRAPHY; FEMALE; GENETICS; HOMOZYGOTE; METABOLISM; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; SYNDROME;

ADOLESCENT; ADULT; ASPARAGINE; ASPARTIC ACID; CEREBRAL CORTEX; CHROMOSOMES, HUMAN, PAIR 21; COLLAGEN TYPE VI; CONSANGUINITY; ELECTROENCEPHALOGRAPHY; FEMALE; HOMOZYGOTE; HUMANS; IRAN; MALE; MIDDLE AGED; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; SYNDROME;

MLCS; MLOWN;

EID: 84875579124     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1248-1     Document Type: Article

References (38)

1. Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI (2008) A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 83:572-581
2. Bennett VD, Adams SL (1990) Identification of a cartilage-specific promoter within intron 2 of the chick alpha 2(I) collagen gene. J Biol Chem 265:2223-2230
3. Berkovic SF, Andermann F, Carpenter S, Wolfe LS (1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315:296-305
4. Bonnemann CG (2011) The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7:379-390
5. Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 98:7516-7521
6. Caviness JN, Brown P (2004) Myoclonus: current concepts and recent advances. Lancet Neurol 3:598-607
7. Cheng JS, Dubal DB, Kim DH, Legleiter J, Cheng IH, Yu GQ, Tesseur I, Wyss-Coray T, Bonaldo P, Mucke L (2009) Collagen VI protects neurons against Abeta toxicity. Nat Neurosci 12:119-121
8. Cheng IH, Lin YC, Hwang E, Huang HT, Chang WH, Liu YL, Chao CY (2011) Collagen VI protects against neuronal apoptosis elicited by ultraviolet irradiation via an Akt/phosphatidylinositol 3-kinase signaling pathway. Neuroscience 183:178-188
9. Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF (2011) A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 88:657-663
10. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498
11. Exome Variant Server (2012) NHLBI Exome Sequencing Project (ESP), Seattle, WA. URL: http://evs.gs.washington.edu/EVS/
12. Fox MA (2008) Novel roles for collagens in wiring the vertebrate nervous system. Curr Opin Cell Biol 20:508-513
13. Grossman TR, Gamliel A, Wessells RJ, Taghli-Lamallem O, Jepsen K, Ocorr K, Korenberg JR, Peterson KL, Rosenfeld MG, Bodmer R, Bier E (2011) Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. PLoS Genet 7:e1002344
14. Hubert T, Grimal S, Carroll P, Fichard-Carroll A (2009) Collagens in the developing and diseased nervous system. Cell Mol Life Sci 66:1223-1238
15. Jobsis GJ, Boers JM, Barth PG, de Visser M (1999) Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 122(Pt 4):649-655
16. Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE (2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 15:185-193
17. Kim HS, Yim SV, Jung KH, Zheng LT, Kim YH, Lee KH, Chung SY, Rha HK (2007) Altered DNA copy number in patients with different seizure disorder type: by array-CGH. Brain Dev 29:639-643
18. Klewer SE, Krob SL, Kolker SJ, Kitten GT (1998) Expression of type VI collagen in the developing mouse heart. Dev Dyn 211:248-255
19. Krebs CE, Paisan-Ruiz C (2012) The use of next-generation sequencing in movement disorders. Front Genet 3:75
20. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760
21. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402-408
22. Makarov V, O'Grady T, Cai G, Lihm J, Buxbaum JD, Yoon S (2011) AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics 28:724-725
23. Marti-Masso JF, Ruiz-Martinez J, Makarov V, Lopez de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisan-Ruiz C (2012) Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet 131:435-442
24. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F (2002) Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 58:1354-1359
25. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P (2008) Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 71:1245-1253
26. Nishimura I, Muragaki Y, Olsen BR (1989) Tissue-specific forms of type IX collagen-proteoglycan arise from the use of two widely separated promoters. J Biol Chem 264:20033-20041
27. Paisan-Ruiz C, Scopes G, Lee P, Houlden H (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. Am J Med Genet B Neuropsychiatr Genet 150B:993-997
28. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047
29. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
30. Quinlan AR, Hall IM (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26:841-842
31. Ramachandran N, Girard JM, Turnbull J, Minassian BA (2009) The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 50(Suppl 5):29-36
32. Royer-Zemmour B, Ponsole-Lenfant M, Gara H, Roll P, Leveque C, Massacrier A, Ferracci G, Cillario J, Robaglia-Schlupp A, Vincentelli R, Cau P, Szepetowski P (2008) Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. Hum Mol Genet 17:3617-3630
33. Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R (2011) Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. Epilepsia 52:2356-2363
34. Saitta B, Chu ML (1994) Two promoters control the transcription of the human alpha 2(VI) collagen gene. Eur J Biochem 223:675-682
35. Shahwan A, Farrell M, Delanty N (2005) Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 4:239-248
36. Suelves M, Vidal B, Serrano AL, Tjwa M, Roma J, Lopez-Alemany R, Luttun A, de Lagran MM, Diaz-Ramos A, Jardi M, Roig M, Dierssen M, Dewerchin M, Carmeliet P, Munoz-Canoves P (2007) uPA deficiency exacerbates muscular dystrophy in MDX mice. J Cell Biol 178:1039-1051
37. Thusberg J, Olatubosun A, Vihinen M (2011) Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358-368
38. Tsao CY, Mendell JR (2006) Coexisting muscular dystrophies and epilepsy in children. J Child Neurol 21:148-150