Missense mutation in exon 2 of α-galactosidase A in a patient with Fabry disease

Archives of Dermatological Research

Volumn 289, Issue 5, 1997, Pages 303-305

  Ishida, Shin'nosuke ^a   Ichimura, Kaoru ^a   Yamakage, Akio ^a   Matsuzaki, Shigeru ^a   Yamazaki, Soji ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

galactosidase A; Classic phenotype; Fabry disease; Missense mutation; R112C

Indexed keywords

ALPHA GALACTOSIDASE; COMPLEMENTARY DNA; RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; CASE REPORT; CELL SUSPENSION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FABRY DISEASE; GENE AMPLIFICATION; HUMAN; INBORN ERROR OF METABOLISM; MALE; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE INHERITANCE;

ADULT; ALPHA-GALACTOSIDASE; CLONING, MOLECULAR; EXONS; FABRY DISEASE; HUMANS; JAPAN; MALE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0030793004     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030050196     Document Type: Article

References (25)

1. Desnick RJ et al (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 edn. McGraw-Hill, New York, pp 2741-2784
2. Sweeley CC, Klionsky B (1963) Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 238:3148-3150
3. Wherret JR, Hakomori S (1973) Characterization of a blood group B glycolipid, accumulating in the pancreas of a patient with Fabry's disease. J Biol Chem 248:3046-3051
4. Elleder M et al (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Virchows Arch A Pathol Anat Histopathol 417:449-455
5. Ogawa K et al (1990) Restricted accumulation of globotriaosyl ceramide in the hearts of atypical cases of Fabry's disease. Hum Pathol 21:1067-1073
6. Nagao Y et al (1991) Hypertrophic cardiomyopathy in late-on-set variant of Fabry disease with high residual activity of α-galactosidase A. Clin Genet 39:233-237
7. Scheldt W von et al (1991) An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324:395-399
8. Bishop DF et al (1986) Humam α-galactosidase A: Nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83:4859-4863
9. Kornreich R et al (1989) Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 17:3301-3302
10. Kornreich R et al (1990) α-Galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem 265: 9319-9326
11. Ishii S et al (1991) Fabry disease: detection of a 13-bp deletion in α-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ann Neurol 29:560-564
12. Davies JP et al (1993) Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet 2: 1051-1053
13. Eng CM et al (1993) Nature and frequency of mutations in the α-galactosidase A gene causing Fabry disease. Am J Hum Genet 53:1186-1197
14. +l to t substitution in a 5′-splice site causing Fabry disease. Genomics 12:643-650
15. Eng CM, Desnick RJ (1994) Molecular basis of Fabry disease: mutations and polymorphisms in the human α-galactosidase A gene. Hum Mutat 3:103-111
16. Kampine JP et al (1967) Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood. Science 155:86-88
17. Mayes JS et al (1981) Differential assay for lysosomal alphagalactosidases in human tissues and its application to Fabry's disease. Clin Chimi Acta 112:247-251
18. Kint JA (1970) Fabry's disease: alpha-galactosidase deficiency. Science 167:1268-1269
19. Lowry OH et al (1951) Protein measurement with the folin phenol reagent. J Biol Chem 193:265-275
20. Sanger F et al (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467
21. Barker D et al (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36: 131-138
22. Ishii S et al (1992) Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29-32
23. Ishii S et al (1994) Human α-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1204:265-270
24. Eng CM et al (1994) Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletion hot-spot in the α-galactosidase A gene. Hum Mol Genet 3:1795-1799
25. Okumiya T et al (1995) α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. Hum Genet 95:557-561