Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing

Genetics in Medicine

Volumn 14, Issue 9, 2012, Pages 823-826

  Wu, Jinyu ^a   Shen, Enjian ^a   Shi, Dashuang ^b   Sun, Zhongsheng ^a,c   Cai, Tao ^a,d  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b GEORGE WASHINGTON UNIVERSITY   (United States)

^c INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^d NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

amyotrophic lateral sclerosis (ALS); motor neuron disease; mutation; superoxide dismutase 1 gene (SOD1); whole exome sequencing

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; CYSTEINE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHINESE; DISULFIDE BOND; EXOME; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPE; HUMAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84866084933     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.50     Document Type: Article

References (20)

1. Donkervoort S, Siddique T. Amyotrophic lateral sclerosis overview. In: Pagon RA, Bird TD, Dolan CR, et al.(eds). GeneReviews. University of Washington: Seattle, WA, 1993.
2. Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology 1999;52:504-509.
3. Siddique T, Ajroud-Driss S. Familial amyotrophic lateral sclerosis, a historical perspective. Acta Myol 2011;30:117-120.
4. Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 2011;7:603-615.
5. Ticozzi N, Tiloca C, Morelli C, et al. Genetics of familial Amyotrophic lateral sclerosis. Arch Ital Biol 2011;149:65-82.
6. Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011;477:211-215.
7. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
8. Johnson JO, Mandrioli J, Benatar M, et al.; ITALSGEN Consortium. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010;68:857-864.
9. Berg JS, Evans JP, Leigh MW, et al. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med 2011;13:218-229.
10. Evans JP, Berg JS. Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge. JAMA 2011;306:2376-2377.
11. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13: 255-262.
12. Hou H, Zhao F, Zhou L, et al. MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation. Nucleic Acids Res 2010;38(Web Server issue): W732-W736.
13. Li R, Li Y, Kristiansen K, Wang J. SOAP: short oligonucleotide alignment program. Bioinformatics 2008;24:713-714.
14. Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993; 261:1047-1051.
15. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-3814.
16. Gahl WA, Markello TC, Toro C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2012;14:51-59.
17. Zhang H, Zhao H, Lu M, et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotroph Lateral Scler Other Motor Neuron Disord 2005;6:234-238.
18. Ito K, Uchiyama T, Fukutake T, Arai K, Kanesaka T, Hattori T. [Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene]. Rinsho Shinkeigaku 2002;42:175-177.
19. Lindberg MJ, Normark J, Holmgren A, Oliveberg M. Folding of human superoxide dismutase: disulfide reduction prevents dimerization and produces marginally stable monomers. Proc Natl Acad Sci USA 2004;101: 15893-15898.
20. Vassall KA, Stubbs HR, Primmer HA, et al. Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS. Proc Natl Acad Sci USA 2011; 108:2210-2215.