Mutations in fucosidosis gene: A review

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

Research output: Contribution to journalArticle

Abstract

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
Volume44
Issue number3-4
Publication statusPublished - 1995

Fingerprint

Fucosidosis
Mutation
Genes
Genetic Heterogeneity
Genetic Association Studies
Ethnic Groups
Italy
Incidence

Keywords

  • fucosidosis
  • inborn metabolic diseases
  • mutations

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Tiberio, G., Filocamo, M., Gatti, R., & Durand, P. (1995). Mutations in fucosidosis gene: A review. Acta Geneticae Medicae et Gemellologiae, 44(3-4), 223-232.

Mutations in fucosidosis gene : A review. / Tiberio, G.; Filocamo, M.; Gatti, R.; Durand, P.

In: Acta Geneticae Medicae et Gemellologiae, Vol. 44, No. 3-4, 1995, p. 223-232.

Research output: Contribution to journalArticle

Tiberio, G, Filocamo, M, Gatti, R & Durand, P 1995, 'Mutations in fucosidosis gene: A review', Acta Geneticae Medicae et Gemellologiae, vol. 44, no. 3-4, pp. 223-232.
Tiberio, G. ; Filocamo, M. ; Gatti, R. ; Durand, P. / Mutations in fucosidosis gene : A review. In: Acta Geneticae Medicae et Gemellologiae. 1995 ; Vol. 44, No. 3-4. pp. 223-232.
@article{8f72e24ff8a04ac4a54b4a09f01d5149,
title = "Mutations in fucosidosis gene: A review",
abstract = "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 = "fucosidosis, inborn metabolic diseases, mutations",
author = "G. Tiberio and M. Filocamo and R. Gatti and P. Durand",
year = "1995",
language = "English",
volume = "44",
pages = "223--232",
journal = "Acta Geneticae Medicae et Gemellologiae",
issn = "0001-5660",
publisher = "Associazione Istituto di Genetica Medica e Gemellologia Gregorio Mendel",
number = "3-4",

}

TY - JOUR

T1 - Mutations in fucosidosis gene

T2 - A review

AU - Tiberio, G.

AU - Filocamo, M.

AU - Gatti, R.

AU - Durand, P.

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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.

KW - fucosidosis

KW - inborn metabolic diseases

KW - mutations

UR - http://www.scopus.com/inward/record.url?scp=0029549947&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029549947&partnerID=8YFLogxK

M3 - Article

C2 - 8739734

AN - SCOPUS:0029549947

VL - 44

SP - 223

EP - 232

JO - Acta Geneticae Medicae et Gemellologiae

JF - Acta Geneticae Medicae et Gemellologiae

SN - 0001-5660

IS - 3-4

ER -