Hostname: page-component-8448b6f56d-m8qmq Total loading time: 0 Render date: 2024-04-24T08:09:59.624Z Has data issue: false hasContentIssue false
  • English
  • Français

Mutations in Fucosidosis Gene: a Review

Published online by Cambridge University Press:  01 August 2014

G. Tiberio ,
M. Filocamo ,
R. Gatti  and
P. Durand
G. Tiberio*
Affiliation:
Istituto di Genetica Medica e Gemellogia “G. Mendel”, Roma
M. Filocamo
Affiliation:
III Divisione di Pediatria Istituto “G. Gaslini”, Genova
R. Gatti
Affiliation:
III Divisione di Pediatria Istituto “G. Gaslini”, Genova
P. Durand
Affiliation:
Istituto di Genetica Medica e Gemellogia “G. Mendel”, Roma
*
The Gregor Mendal Institute, 5 Piazza Galeno, 00162 Rome –, Italy

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. Up to now 79 cases have been described and several others identified but not yet published. The higher incidence of the disease is in Italy, where nearly 20 patients have been identified. Fourteen disease-causing mutations have been detected and four of them, Q422X, G60D, E375X, P141fs are present in more than 70% of the forty patients studied. In Italian patients, only seven mutations have been described and P141fs and G60D mutations are present in more than 50% of the cases. The P141fs mutation is absent in other ethnic groups. It has been impossible to establish genotype-phenotype correlation so far and the clinical variability of the disease cannot be explained only by genetic heterogeneity.

Keywords

Inborn metabolic diseasesFucosidosisMutations
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 44 , Issue 3-4 , October 1995 , pp. 223 - 232
Copyright
Copyright © The International Society for Twin Studies 1995

References

REFERENCES

1. Bock, A, Fang-Kircher, S, Braun, F, Gerdov, C, Breier, F, Jurecka, W, Paschke, E (1995): Another unusual case of fucosidosis. J Inher Metab Dis 18, 93–94.Google Scholar
2. Beratis, NG, Turner, BM, Hirshhorn, K (1976): Replay to the letter of Durand et al. J Pediatr 89, 690–691.CrossRefGoogle Scholar
3. Durand, P, Borrone, C, Della Cella, G (1966): A new mucopolysaccharide lipid-storage disease? Lancet 2: 1313–1314.CrossRefGoogle Scholar
4. Durand, P, Borrone, C, Della Cella, G, Philippart, M (1968): Fucosidosis. Lancet 1: 1198.Google Scholar
5. Durand, P, Borrone, C, Della Cella, G (1969): Fucosidosis. J Pediatr 75, 665–674.Google Scholar
6. Echenne, B, Baldet, P, Maire, I, Malan, P, Astruc, J, Boudet, C, Brunel, D (1982): Fucosidose de type II. Deux observations. Pédiatrie 37, 501–510.Google Scholar
7. Filocamo, M, Di Rocco, M, Rolando, S, Schiappapietra, M, Costantino, G (1982): Fucosidosi: revisione dell'esperienza personale. Ped Med Chir (Med Surg Ped) 4, 185–194.Google Scholar
8. Gatti, R, Cavalieri, S, Romeo, G (1979): Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes. Hum Genet 48, 23–30.Google Scholar
9. Hwu, WL, Chuang, SC, Wang, WC, Wang, IR (1994): Fucosidosis in a Chinese girl. J Inherit Metab Dis 17: 255.Google Scholar
10. Kessler, RM, Altman, DH, Martin-Jimenez, R (1981): Cranial TC in fucosidosis. Am J Neuroradiol 2, 591–592.Google Scholar
11. Kretz, KA, Cripe, D, Geoffrey, SC, Fukushima, H, O'Brien, JS (1991): Structure and sequence of the human alpha-L-fucosidase gene and pseudogene. Genomics 12, 276–280.Google Scholar
12. Kretz, KA, Darby, JK, Willems, PJ, O'Brien, JS (1989): Characterization of the EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci 1, 177–180.Google Scholar
13. Ng, WG, Donnel, Gn, Koch, R, Bergren, WR (1976): Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase. Am J Hum Genet 28, 42–50.Google Scholar
14. Seo, HC, Willems, PJ, Kretz, KA, Martin, BM, O'Brien, J (1993a): Fucosidosis: four new mutations and a new polymorphism. Hum Molec Genet 2: 423–429.Google Scholar
15. Seo, HC, Willems, PJ, O'Brien, JS (1993b): Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. Hum Molec Genet 8: 1205–1208.Google Scholar
16. Seo, HC, Kunze, J, Willems, PJ, Kim, AH, Hanefeld, F, O'Brien, JS (1994a): A single-base deletion mutation in a Turkish patient with fucosidosis. Hum Mut 3: 407–408.Google Scholar
17. Seo, HC, Yang, M, Tonlorenzi, R, Willems, PJ, Kim, AH, Filocamo, M, Gatti, R, DiCioccio, RA, O'Brien, JS (1994b): A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. Hum Molec Genet 11: 2065–2066.Google Scholar
18. Snyder, RD, Carlow, TJ, Ledman, J, Wenger, DA (1976): Ocular findings in fucosidosis. Birth Defects 12, 241–251.Google ScholarPubMed
19. Turner, BM, Turner, VS, Beratis, NG, Hirschhorn, K (1975): Polymorphism of human alpha-fucosidase. Am J Hum Genet 27: 651–661.Google Scholar
20. Willems, PJ, Darby, JK, DiCioccio, RA, Nakashima, P, Eng, C, Kretz, KA, Cavalli-Sforza, LL, Shooter, EM, O'Brien, JS (1988a): Identification of a mutant in the structural alpha-L-fucosidase gene in fucosidosis. Am J Hum Genet 43: 753–763.Google Scholar
21. Willems, PJ, Garcia, CA, De Smedt, MCH, Martin-Jimenez, R, Darby, JK, Duenas, DA, Granado-Villar, D, O'Brien, JS (1988b): Intrafamilial variability in fucosidosis. Clin Genet 34: 7–14.Google Scholar
22. Willems, PJ, Gatti, R, Darby, JK, Romeo, G, Durand, P, Dumon, JE, O'Brien, JS (1991): Fucosidosis revisited: a review of 77 patients. Am J Hum Genet 38, 11–131.Google Scholar
23. Williamson, M, Cragg, H, Grant, J, Kretz, K, O'Brien, J, Willems, PJ, Young, E, Winchester, B (1993): A 5'splice mutation in fucosidosis. J Med Genet 30, 218–223.Google Scholar
24. Yang, M, DiCioccio, AR (1994): A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing. Hum Genet 93, 597–599.Google Scholar