Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

Human Mutation

Volumn 9, Issue 4, 1997, Pages 356-358

  Kawamata, Jun ^a   Shimohama, Shun ^a   Takano, Shin ^b   Harada, Kiyoshi ^b   Ueda, Kunihiro ^a   Kimura, Jun ^a  

^a KYOTO UNIVERSITY   (Japan)

^b SHIZUOKA GENERAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; AGE OF ONSET; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; GENES; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; SUPEROXIDE DISMUTASE;

EID: 0030961866     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<356::AID-HUMU9>3.0.CO;2-3     Document Type: Article

References (10)

1. Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K (1993) Mild ALS in Japan associated with novel SOD mutation. Nature Genet 5:323-324.
2. Appelbaum JS, Roos RP, Salazar-Grueso EF, Buchman A, Iannaccone S, Glantz R, Siddique T, Maselli R (1992) Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 42:1488-1492.
3. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261:1047-1051.
4. Elshafey A, Lanyon, W, Conner J (1994) Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 3:363-364.
5. Estaban J, Rosen DM, Bowling AC, Sapp P, McKenna-Yasek D, O'Regan JP, Beal MF, Horvitz HR, Brown RH Jr (1994) Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 3:997-998.
6. Hamida MB, Hentati F, Hamida CB (1990) Herditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain 113:347-363.
7. Hirano M, Fujii J, Nagai Y, Sonobe M, Okamoto K, Araki H, Taniguchi N, Ueno S (1994) A new variant Cu/Zn superoxide dismutase (Val7-Glu) deduced from lympocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Comm 204:572-577.
8. Jones CT, Swingler RJ, Brock DJH (1994a) Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 3:649-650.
9. Jones CT, Shaw PJ, Chari G, Brock DJH (1994b) Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 8:329-330.
10. Wohlfart G, Swank RL (1941) Pathology of amyotrophic lateral sclerosis. Arch Neurol Psychiatry 46:783-799.