Fucosidosis: Genetic and biochemical analysis of eight cases

Journal of Medical Genetics

Volumn 34, Issue 2, 1997, Pages 105-110

  Cragg, Helen ^a   Williamson, Magali ^a   Young, Elisabeth ^a   O'Brien, John ^b   Alhadeff, Jack ^c   Fang Kircher, Suzanne ^d   Paschke, Eduard ^e   Winchester, Bryan ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c LEHIGH UNIVERSITY   (United States)

^d UNIVERSITY OF VIENNA   (Austria)

^e UNIVERSITY OF GRAZ   (Austria)

Author keywords

Fucosidosis; Mutations; fucosidase

Indexed keywords

ALPHA LEVO FUCOSIDASE; CELL ENZYME;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; FIBROBLAST; FUCOSIDOSIS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; LYSOSOME STORAGE DISEASE; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031048329     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.2.105     Document Type: Article

References (21)

1. Durand P, Borrone C, Della Cella G. A new mucopolysaccharide lipid-storage disease? Lancet 1966;ii:1313-14.
2. Van Hoof F, Hers HG. Mucopolysaccharidosis by absence of α-fucosidase. Lancet 1968;i:798.
3. Willems PJ, Gatti R, Darby JK, et al. Fucosidosis revisited: a review of 77 patients. Am J Med Genet 1991;38:71-131.
4. Willems PJ, Garcia CA, De Smedt MCH, et al. Intrafamilial variability in fucosidosis. Clin Genet 1988;34:7-14.
5. Vellodi A, Cragg HM, Winchester B, et al. Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow Transplant 1995;15:153-8.
6. Taylor RM, Farrow BRH, Stewart GJ, Healy PJ, Tiver K. The clinical effects of lysosomal enzyme replacement by bone marrow transplantation after total lymphoid irradiation on neurological disease in fucosidase-deficient dogs. Transplant Proc 1988;20:89-93.
7. Fowler ML, Nkai H, Byers MG, et al. Chromosome 1 localisation of the human-alpha-L-fucosidase structural gene with a homologous site on chromosome 2. Cytogcnet Cell Genet 1986;43:103-8.
8. Kretz KA, Cripe D, Carson GS, Fukushima H, O'Brien JS. Structure and sequence of the human α-L-fucosidase gene and pseudogene. Genomics 1992;12:276-80.
9. O'Brien JS, Willems PJ, Fukushima H, et al. Molecular biology of the alpha-L-fucosidase gene and fucosidosis. Enzyme 1987;38:45-53.
10. Occhiodoro T, Beckman KR, Morris CP, Hopwood JJ. Human α-L-fucosidase: complete coding sequence from cDNA clones. Biochem Biophys Res Commun 1989;164:439-45.
11. Ng WG,Donnell GN, Koch R. Serum alpha fucosidase activity in the diagnosis offucosidosis. Pediatr Res 1973;7: 391.
12. Eiberg H, Mohr J, Neilsen LS. Linkage of plasma α-L-fucosidase (FUCA2) and the plasminogen (PLG) system. Clin Genet 1984;26:23-9.
13. Murray JC, Beutow KH, Donovan M, et al. Linkage disequilibrium of plasminogen polymorphisms and assignments of the gene to human chromosome 6q26-6q27. Am J Hum Genet 1987;82:338-50.
14. Van Elsen AF, Leroy JG, Wauters PJ, Willems PJ, Buyaert C, Verheyen K. In vitro expression of α-L-fucosidase activity polymorphism observed in plasma. Hum Mol Genet 1983;64:235-9.
15. Kretz KA, Darby JK, Willems PJ, O'Brien JS. Characterization of EcoR1 mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci 1989;1:177-80.
16. Yang M, Allen H, DiCioccio RA. A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patient. Biochem Biophys Res Commun 1992;189:1063-8.
17. Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS. Fucosidosis: four new mutations and a new polymorphism. Hum Mol Genet 1993;2:423-9.
18. Seo HC, Willems PJ, O'Brien JS. Six additional mutations in fucosidosis: three nonsense mutatons and three frameshift mutations. Hum Mol Genet 1993;2:1205-8.
19. Williamson M, Cragg H, Grant J, et al. A 5′ splice site mutation in fucosidosis. J Med Genet 1993;30:218-23.
20. Seo HC, Kunze J, Willems PJ, Kim AH, Hanefeld F, O'Brien JS. A single-base deletion mutation in a Turkish patient with fucosidosis. Hum Mutat 1994;3:407-8.
21. Seo HC, Yang M, Tonlorenz LR, et al. A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient. Hum Mol Genet 1994;3:2065-6.