Two novel mutations in the α-galactosidase gene in Japanese classical hemizygotes with Fabry disease

Japanese Journal of Human Genetics

Volumn 41, Issue 3, 1996, Pages 313-321

  Okumiya, Toshika ^a,e   Takenaka, Toshihiro ^a   Ishii, Satoshi ^b   Kase, Ryoichi ^b   Kamei, Sachiko ^c   Sakuraba, Hitoshi ^d  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

^d Usuki Bio Research Center   (Japan)

^e KOCHI MEDICAL SCHOOL   (Japan)

Author keywords

Fabry disease; gene mutation; partial deletion; splice site mutation; galactosidase

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXON; FABRY DISEASE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; INTRON; MALE; PATHOGENESIS; RNA SPLICING;

EID: 0029904647     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01913174     Document Type: Article

References (26)

1. Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH Jr (1984): β-Thalassemia in American blacks: Novel mutations in the "TATA" box and an acceptor splice site. Proc Natl Acad Sci USA 81: 1154-1158
2. Bishop DF, Kornreich R, Eng CM, loannou YA, Fitzmaurice TF, Desnick RJ (1988): Human α-galactosidase: Characterization and eukaryotic expression of the full-length cDNA and structural organization of the gene. In: Salvayre R, Douste-Blazy L, Gatt S (eds). Lipid storage disorders. Plenum, New York, pp 809-822
3. Davies JP, Winchester BG, Malcolm S (1993): Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet 2: 1051-1053
4. Davies J, Christomanou H, Winchester B, Malcolm S (1994): Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease. Hum Mol Genet 3: 667-669
5. Desnick RJ, loannou Y A, Eng CM (1995): α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 2741-2784
6. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ (1993): Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53: 1186-1197
7. Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ (1994): Fabry disease: Twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the a-galactosidase A gene. Hum Mol Genet 3: 1795-1799
8. Fukuhara Y, Sakuraba H, Oshima A, Shimmoto M, Nagao Y, Nadaoka Y, Suzuki T, Suzuki Y (1990): Partial deletion of human a-galactosidase A gene in Fabry disease: Direct repeat sequences as a possible cause of slipped mispairing. Biochem Biophys Res Commun 170: 296-300
9. Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y (1991): Fabry disease: Detection of 13-bp deletion in α-galactosidase A gene and its application to gene diagnosis of hétérozygotes. Ann Neurol 29: 560-564
10. Ishii S, Sakuraba H, Suzuki Y (1992): Point mutations in the upstream region of the αgalactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89: 29-32
11. Koide T, Ishiura M, Iwaki K, Inoue M, Kaneda Y, Okada Y, Uchida T (1990): A case of Fabry's disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. FEBS Lett 259: 353-356
12. Kornreich R, Desnick RJ, Bishop DF (1989): Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 17: 3301-3302
13. Krawczak M, Cooper DN (1991): Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86: 425-441
14. Mayes JS, Scheere JB, Sifers RN, Donaldson ML (1981) Differential: assay for lysosomal αgalactosidase in human tissues and its application to Fabry's disease. Clin Chim Acta 112: 247-251
15. Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y (1991): Hypertrophie cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A. Clin Genet 39: 233-237
16. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H (1995): An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333: 288-293
17. Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y (1995a): α-Galactosidase gène mutations in Fabry disease: Heterogeneous expressions of mutant enzyme proteins. Hum Genêt 95: 557-561
18. Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y (1995b): Galactose stabilizes various missense mutants of α-galactosidase in Fabry disease. Biochem Biophys Res Commun 214: 1219-1224
19. Ploos van Amstel JK, Jansen RPM, de Jong JGN, Hamel BCJ, Wevers RA (1994): Six novel mutations in the α-galactosidase A gene in families with Fabry disease. Hum Mol Genet 3: 503-505
20. Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y (1990): Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47: 784-789
21. +l to t substitution in a 5′-splice site causing Fabry disease. Genomics 12: 643-650
22. Sambrook J, Fritsch EF, Maniatis T (1989): Molecular cloning: A laboratory manual, 2nd ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
23. Takenaka T, Sakuraba H, Hashimoto K, Fujino O, Fujita T, Tanaka H, Suzuki Y (1996): Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy. Clin Genet 49: 255-260
24. Tanaka A, Sakuraba H, Isshiki G, Suzuki K (1993): The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the β-hexosaminidase α gene. Biochem Biophys Res Commun 192: 539-546
25. von Scheldt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EGJ, Christmanou H, Kandolf R, Bishop DF, Desnick RJ (1991): An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324: 395-399
26. Yokoi T, Shinoda K, Ohno I, Kalo K, Miyawaki T, Taniguchi N (1991): A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase A gene in a patient with Fabry disease. Jpn J Human Genet 36: 245-250