A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree

References

• Robberecht W, Philips T. The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci. 2013; 14:248–64.
   PubMed Web of Science ®Google Scholar
• Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2011;82:623–7.
   PubMed Web of Science ®Google Scholar
• Riva N, Agosta F, Lunetta C, Filippi M, Quattrini A. Recent advances in amyotrophic lateral sclerosis. J Neurol. 2016; 263:1241–54.
   PubMed Web of Science ®Google Scholar
• Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
   PubMed Web of Science ®Google Scholar
• Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
   PubMed Web of Science ®Google Scholar
• Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet. 1995;10:61–6.
   PubMed Web of Science ®Google Scholar
• Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol. 2001;49:267–71.
   PubMed Web of Science ®Google Scholar
• Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat. 2012;33:1345–51.
   PubMed Web of Science ®Google Scholar
• DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
   PubMed Web of Science ®Google Scholar
• Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361–2.
   PubMed Web of Science ®Google Scholar
• Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics. 2015;31:2745–7.
   PubMed Web of Science ®Google Scholar
• Conchillo-Solé O, de Groot NS, Avilés FX, Vendrell J, Daura X, Ventura S. AGGRESCAN: a server for the prediction and evaluation of “hot spots of aggregation in polypeptides” . BMC Bioinformatics. 2007;8:65.
   PubMed Web of Science ®Google Scholar
• Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL Workspace: a web-based environment for protein structure homology modelling. Bioinformatics. 2006;22:195–201.
   PubMed Web of Science ®Google Scholar
• Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. ALS Other Mot Neuron Disord. 2000;1:293–9.
   PubMed Web of Science ®Google Scholar
• Perry JJ, Shin DS, Getzoff ED, Tainer JA. The structural biochemistry of the superoxide dismutases. Biochim Biophys Acta. 2010;1804:245–62.
   PubMed Web of Science ®Google Scholar
• Elam JS, Taylor AB, Strange R, Antonyuk S, Doucette PA, Rodriguez JA, et al. Amyloid-like filaments and waterfilled nanotubes formed by SOD1 mutant proteins linked to familial ALS. Nat Struct Mol Biol. 2003;10:461–7.
   Google Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint Consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
   PubMed Web of Science ®Google Scholar
• Nakamura A, Kuru S, Hineno A, Kobayashi C, Kinoshita T, Miyazaki D, et al. Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene. Neurobiol Aging. 2014;35:2420.e7–.e12.
   Web of Science ®Google Scholar
• Tripolszki K, Csányi B, Nagy D, Ratti A, Tiloca C, Silani V, et al. Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2017;53:195.e1–.e5.
   Web of Science ®Google Scholar
• Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4:162–6.
   PubMed Web of Science ®Google Scholar
• Morita M, Abe K, Takahashi M, Onodera Y, Okumura H, Niino M. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol. 1998;5:389–92.
   Web of Science ®Google Scholar
• Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, et al. An ALS case with a novel D90N-SOD1 heterozygous missense mutation. Amyotrophic Lateral Sclerosis. 2012;13:393–5.
   PubMed Web of Science ®Google Scholar
• Regal L, Vanopdenbosch L, Tilkin P, Van Den Bosch L, Thijs V, Sciot R, et al. The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. Arch Neurol. 2006;63:262–7.
   PubMedGoogle Scholar
• Restagno G, Lombardo F, Sbaiz L, Mari C, Gellera C, Alimonti D, et al. The rare G93D mutation causes a slowly progressing lower motor neuron disease. Amyotrophic Lateral Sclerosis. 2008;9:35–9.
   PubMed Web of Science ®Google Scholar
• Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Sermutation in the SOD1 gene. J Neurol Sci. 1997;153:82–5.
   PubMed Web of Science ®Google Scholar
• Suzuki M, Irie T, Watanabe T, Mikami H, Yamazaki T, Oyanagi K, et al. Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study. J Neurol Sci. 2008;268:140–4.
   PubMed Web of Science ®Google Scholar
• Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromuscul Disord. 1996;6:361–6.
   PubMed Web of Science ®Google Scholar
• Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology. 1997;48:746–51.
   PubMed Web of Science ®Google Scholar
• Orrell RW, de Belleroche J, Marklund S, Bowe F, Hallewell R. A novel SOD mutant and ALS. Nature. 1995;374:504–5.
   PubMed Web of Science ®Google Scholar
• Prudencio M, Hart PJ, Borchelt DR, Andersen PM. Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. Hum Mol Genet. 2009;18:3217–26.
   PubMed Web of Science ®Google Scholar
• Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science. 1994;264:1772–5.
   PubMed Web of Science ®Google Scholar
• Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis?. Brain. 2013;136:2342–58.
   PubMed Web of Science ®Google Scholar
• Majoor-Krakauer D, Willems PJ, Hoffman A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet. 2003;63:83–101.
   PubMed Web of Science ®Google Scholar
• Penco S, Lunetta C, Mosca L, Maestri E, Avemaria F, Tarlarini C, et al. Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease. J Mol Neurosci. 2011;44:25–30.
   PubMed Web of Science ®Google Scholar