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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

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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

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