Abstract
Fucosidosis is an autosomal recessive disorder characterized by accumulation of fucoglycoconjugates within lysosomes due to deficiency of alfa-L-fucosidase. The disorder was originally described in Italy (Durand P. et al., 1966) where at least 14 patients have been observed, 7 of whom have been reported (Borrone C. et al., 1974; Filocamo M. et al., 1982; Giovannini M. et al., 1978; Porfiri B. et al., 1981). More than 80 patients have been described in the world literature. Two clinical phenotypes have been discriminated based primarily on the age of onset and severity of the disease (Koussef G. et al., 1976). They are: fucosidosis type 1, with onset at about 6–8 months of age and death within the first 6 years of life; fucosidosis type 2 with onset at one or two years of age and survival into adulthood.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Bibliography
Astrin, K.H., and Desnick, R.J., 1984. Chromosomal localization of the structural genes econding the human lysosomal hydrolases and their activator and stabilizer proteins. In: “The Molecular Basis of Lysosomal Storage Disorders”, J.A. Barranger and R.O. Brady, ed. New York: Academic Press.
Borrone, C., Gatti, R., Trias, X., Durand, P., 1974. Fucosidosis: clinical, biochemical, immunologic and genetic studies in two new cases. J. Ped., 84:727.
Chirwing, J.M., Przybyla, A.E., MacDonald R.J., and Rutter, W.J., 1979. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry, 18:5294.
Darby, J.K., Johnsen J., Nakashima, P., Willems, P.J., O’Brien, J.S., Fowler, M.L., Shows, T.B., Shooter, E.M., and Cavalli-Sforza, L.L., 1986. PvuII RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCAI) N.A.R., 14:9543.
Durand, P., Borrone, C., Delia Cella, G., 1966. A new mucopolysaccharide lipid-storage disease? Lancet, 2:1313.
Durand, P., Gatti, R., Borrone, C., Costantino, G., Cavalieri, S., Filocamo, M., Romeo, G., 1979. Detection carrier and prenatal diagnosis for fucosidosis in Calabria. Hum. Genet., 51:195.
Filocamo, M., Di Rocco, M., Rolando, S., Schiappapietra, M., Costantino, G., 1982. Fucosidosi: revisione dell’esperienza personale. Ped. Med. Chir., 4:85.
Fukushima, H., Dewet, R., and O’Brien, J.S., 1985. Molecular cloning of cDNA for human alfa-L-fucosidase. PNAS, 82:1262.
Graves, P.N., Grabowski, G., Ludman, M., Palese, P., and Smith, F., 1986. Human acid beta-glucosidase: Northern blot and SI Nuclease Analysis of mRNA from Hela Cells and normal and Gaucher Disease Fibroblast. Am. J. Hum. Gen. 39:763-774.
Giovannini, M., Riva, E., Beluffi, G., Perego, O., 1978. Fucosidosi: descrizione di un caso clinico. Min. Ped. 30:1307–1312.
Koussef, B.G., Beriatis, N.G., Strauss, L., Brill, P.W., Rosenfield, R.E., Kaplan, B., Hirschhorn, K., 1976. Fucosidosis type 2. Ped. 57:205.
Kunkel, L.M., Smith, K.D., Boyer, S.H., Bargaonkar, D.S., 1977. Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. PNAS, 74:1245–1249.
Maniatis, Y., Fritsch, E.F., and Sambroak, J., 1982. “Molecular cloning”. Cold Spring Harbor Laboratory.
McMaster, G.K., and Carmichael, G.G., 1977. Analysis of single and double-stranded nucleic acids on polyacrilamide and agarose gels by using glyoxal and acridine orange. PNAS, 74:4835.
Myerowitz, R., and Hogikyan, N.D., 1986. Different mutations in Ashkenazic Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science 232:1646-1648.
O’Brien, J.S., Willems, P.J., Fukushima, H., Dewet, G., Darby, J.R., Di Cioccio, R.D., Fowler, M.L., Shows, B.T., 1987. Molecular biology of alfa-L-fucosidase and fucosidosis. Enzyme (in press ).
Porfiri, B., Ricci, R., Seminara, D., Segni, F., 1981. Ultrastructural studies of type II fucosidosis. Arch. Dermatol. Res. 270:57-66.
Roncuzzi, L., Fadda, S., Mochi, M., Prosperi, L., Sangiorgi, S., Santamaria, R., Sbarra, D., Besana, D., Morandi, L., Rocchi, M., and Romeo, G., 1985. Mapping of the X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am. J. Hum. Genet. 37:407–417.
Shull, R.M., Hastings, N.E., Selcer, R.R., Johns, J.B., Smith, J.R., Cullen, W.C., and Constantopoulos, G., 1987. Bone marrow transplantation in canine mucopolysaccharidosis I. J. Clin. Invest., 79:435–443.
Taylor, R.M., Farrow, B.R.H., Stewart, G.J., Healy, P.J., 1986. Enzyme replacement in nervous tissue after allogeneic bone marrow transplantation for fucosidosis in dogs. Lancet, October 4, 772–774.
Yamamoto, T., Sabel, M., Adams, S.L., Avvedimento, V.E., Di Lauro, R., Pastan, I., Benoit De Cambrugghe A., Pesciotta, D., Fietzek, P., Olsen, B., 1980. Construction of a recombinant bacterial plasmid containing pro alfa 1 collagen DNA sequence. J.B.C. 255:2612–5.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1988 Plenum Press, New York
About this paper
Cite this paper
Persici, P. et al. (1988). Molecular Characterization Of Mutations Causing Fucosidosis in Italy. In: Salvayre, R., Douste-Blazy, L., Gatt, S. (eds) Lipid Storage Disorders. NATO ASI Series, vol 150. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1029-7_36
Download citation
DOI: https://doi.org/10.1007/978-1-4613-1029-7_36
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4612-8300-3
Online ISBN: 978-1-4613-1029-7
eBook Packages: Springer Book Archive