Mutations in fucosidosis gene: A review

G. Tiberio, M. Filocamo, R. Gatti, P. Durand

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)223-232
Number of pages10
JournalActa Geneticae Medicae et Gemellologiae
Issue number3-4
Publication statusPublished - 1995


  • fucosidosis
  • inborn metabolic diseases
  • mutations

ASJC Scopus subject areas

  • Genetics(clinical)


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