Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia

Journal of the Neurological Sciences

Volumn 337, Issue 1-2, 2014, Pages 219-223

  Miyamoto, Ryosuke ^a,b   Morino, Hiroyuki ^b   Yoshizawa, Akio ^b   Miyazaki, Yoshimichi ^a   Maruyama, Hirofumi ^b   Murakami, Nagahisa ^a   Fukada, Kei ^c   Izumi, Yuishin ^a   Matsuura, Shinya ^b   Kaji, Ryuji ^a   Kawakami, Hideshi ^b  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c OSAKA GENERAL MEDICAL CENTER   (Japan)

Author keywords

Ataxia telangiectasia like disorder; MRE11; Myoclonus; Neurogenetics; Progressive myoclonic ataxia; Tremor

Indexed keywords

ALPHA FETOPROTEIN; BENZODIAZEPINE DERIVATIVE; CLONAZEPAM; CYSTEINE ETHYL ESTER TC 99M; IMMUNOGLOBULIN; LEVODOPA; MRE11 PROTEIN; RAD50 PROTEIN;

ADULT; APRAXIA; ARTICLE; CAROTID ARTERY OBSTRUCTION; CASE REPORT; CELIAC DISEASE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBROVASCULAR ACCIDENT; ELECTROENCEPHALOGRAM; ELECTROPHYSIOLOGY; EMOTIONAL STRESS; EXOME; FEMALE; GASTROINTESTINAL SYMPTOM; GENE SEQUENCE; HUMAN; INVOLUNTARY MOVEMENT; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUSCLE WEAKNESS; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGRESSIVE MYOCLONIC ATAXIA; PROTEIN EXPRESSION; SPASTICITY; STARTLE REFLEX; TELANGIECTASIA; WESTERN BLOTTING;

ATAXIA-TELANGIECTASIA-LIKE DISORDER; MRE11; MYOCLONUS; NEUROGENETICS; PROGRESSIVE MYOCLONIC ATAXIA; TREMOR;

BRAIN; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; MYOCLONIC CEREBELLAR DYSSYNERGIA;

EID: 84894065668     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.11.032     Document Type: Article

References (24)

1. C.D. Marsden, A.E. Harding, J.A. Obeso, and C.S. Lu Progressive myoclonic ataxia (the Ramsay Hunt syndrome) Arch. Neurol. 47 1990 1121 1125
2. L.A. Pennacchio, A.E. Lehesjoki, N.E. Stone, V.L. Willour, K. Virtaneva, and J. Miao et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science 271 1996 1731 1734
3. E. Bonten, A. van der Spoel, M. Fornerod, G. Grosveld, and A. d'Azzo Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis Genes Dev. 10 1996 3156 3169
4. B.A. Minassian, J.R. Lee, J.A. Herbrick, J. Huizenga, S. Soder, and A.J. Mungall et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy Nat. Genet. 20 1998 171 174
5. E.M. Chan, E.J. Young, L. Ianzano, I. Munteanu, X. Zhao, and C.C. Christopoulos et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy Nat. Genet. 35 2003 125 127
6. S.E. Mole, R.E. Williams, and H.H. Goebel Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses Neurogenetics 6 2005 107 126
7. G.S. Stewart, R.S. Maser, T. Stankovic, D.A. Bressan, M.I. Kaplan, and N.G. Jaspers et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder Cell 99 1999 577 587
8. Y. Matsumoto, T. Miyamoto, H. Sakamoto, H. Izumi, Y. Nakazawa, and T. Ogi et al. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly DNA Repair (Amst) 10 2011 314 321
9. R. Saunders-Pullman, D. Raymond, A.J. Stoessl, D. Hobson, K. Nakamura, and S. Pullman et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites Neurology 78 2012 649 657
10. A.M. Taylor, A. Groom, and P.J. Byrd Ataxia-telangiectasia-like disorder (ATLD) - its clinical presentation and molecular basis DNA Repair (Amst) 3 2004 1219 1225
11. K.P. Bhatia, P. Brown, R. Gregory, G.G. Lennox, H. Manji, and P.D. Thompson et al. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum Brain 118 Pt 5 1995 1087 1093
12. M.W. Becher, D.C. Rubinsztein, J. Leggo, M.V. Wagster, O.C. Stine, and N.G. Ranen et al. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees Mov. Disord. 12 1997 519 530
13. J. van Gaalen, P. Giunti, and B.P. van de Warrenburg Movement disorders in spinocerebellar ataxias Mov. Disord. 26 2011 792 800
14. Huqun, S. Fukuyama, H. Morino, H. Miyazawa, T. Tanaka, and T. Suzuki et al. A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data BMC Bioinforma. 11 Suppl. 7 2010 S5
15. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
16. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, and A. Kernytsky et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
17. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
18. A.G. Bird, S.M. McLachlan, and S. Britton Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein-Barr virus-induced B-cell lines Nature 289 1981 300 301
19. T.H. Stracker, and J.H. Petrini The MRE11 complex: starting from the ends Nat. Rev. Mol. Cell Biol. 12 2011 90 103
20. C.B. Schiller, K. Lammens, I. Guerini, B. Coordes, H. Feldmann, and F. Schlauderer et al. Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling Nat. Struct. Mol. Biol. 19 2012 693 700
21. M. Fernet, M. Gribaa, M.A. Salih, M.Z. Seidahmed, J. Hall, and M. Koenig Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder Hum. Mol. Genet. 14 2005 307 318
22. D. Oba, M. Hayashi, M. Minamitani, S. Hamano, N. Uchisaka, and A. Kikuchi et al. Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder Acta Neuropathol. 119 2010 513 520
23. D. Delia, M. Piane, G. Buscemi, C. Savio, S. Palmeri, and P. Lulli et al. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder Hum. Mol. Genet. 13 2004 2155 2163
24. H. Shibasaki Electrophysiological studies of myoclonus Muscle Nerve 23 2000 321 335