Novel trinucleotide deletion in Fabry's disease

Human Genetics

Volumn 97, Issue 4, 1996, Pages 468-470

  Cariolou, Marios A ^a   Christodoulides, Michael ^a   Manoli, Panayiotis ^a   Kokkofitou, Avgousta ^a   Tsambaos, Dionysios ^b  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b UNIVERSITY OF PATRAS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; TRINUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FABRY DISEASE; FACE; GENE DELETION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; TELANGIECTASIA;

EID: 0029878918     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02267068     Document Type: Article

References (20)

1. Anderson W (1898) A case of "Angiokeratoma". Br J Dermatol 10: 113-117
2. Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ (1989) Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene. J Clin Invest 83 : 1390-1399
3. Bishop DF, Calhoun DH. Bernstein HS, Hantzopoulos P, Quinn M. Desnick RJ (1986) Human α-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83 : 4859-4863
4. Bishop DF, Kornreich R, Desnick RJ (1988a) Structural organization of the α-saiactosidase A gene: further evidence for the absence of a 3′ untranslated region, Proc Natl Acad Sci USA 85: 3903-3907
5. Bishop DF, Kornreich R, Eng CE, Ioannou YA, Fitzmaurice TF, Desnick RJ (1988b) 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: biological and medical aspects, Plenum Press, New York, pp 809-822
6. Brady RO, Gal AE, Bradley RM, Martenson E, Warsshaw AL, Laster L (1967) Enzymatic defect in Fabry's disease: ceramide trihexosidase deficiency, N Engl J Med 276 : 1163-1166
7. 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
8. Davies JP, 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
9. deJong JGN, Jansen PPM, van der Berg CJMG, Hamel BCJ, Weves RA, Ploos van Amstel JK (1993) Genetic heterogeneity in Fabry's disease: mutations in the a-galactosidase A gene. In: Peltonen L (ed) The Finnish Medical Society Duodecim, Helsinki, Finland
10. Desnick RJ, Bishop DF (1989) Fabry disease: α-galactosidase A deficiency; Schindler disease: α-N-acetylgalactosaminidase deficiency. In: Beaudet A, Sly W, Valle D (eds) The metabolic basis of inherited diseases, 6th edn, McGraw Hill, New York, pp 1751-1796
11. Desnick RJ, Eng CM (1993) Fabry disease: α-Galactosidase A deficiency. In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Autin KF (eds) Dermatology in general medicine, 4th edn. McGraw Hill, New York, pp 1916-1937
12. 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
13. 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
14. Fabry J (1898) Ein Beitrag zur Kenntnis der purpua haemorrhagica nodularis (Purpura papulosa haemorrhagica hebrae). Arch Dermatol Syph 43 : 187-200
15. Kint JA (1970) Fabrv's disease: α-galactosidase deficiency. Science 167 : 1268-1269
16. Kornreich R, Desnick RJ (1993) Fabry disease: detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification. Hum Mutat 2 : 108-111
17. Kornreich R, Desnick RJ, Bishop DF (1989) Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 17: 3301-3302
18. MacDermot KD, Morgan SH, Cheshire JK, Wilson TM (1987) Anderson Fabry disease. Close linkage with highly polymorphic DNA markers DXS17, DXS87, and DXS88, Hum Genet 77 : 263-266
19. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 : 1215
20. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics 5 : 874-879