Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

doi:10.1016/j.gene.2015.12.024

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Article

Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

Gene - 1 Mar 2016

Zizzo Carmela, Monte Ines, Pisani Antonio, Fatuzzo Pasquale, Riccio Eleonora, Rodolico Margherita Stefania, Colomba Paolo, Uva Maurizio, Cammarata Giuseppe, Alessandro Riccardo, Iemolo Francesco, Duro Giovanni

Abstract excerpt

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21-22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of...

Topics

Adolescent
Adult
Child
Fabry Disease
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation, Missense
Point Mutation
Young Adult
alpha-Galactosidase

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PMID: 26691501
DOI: 10.1016/j.gene.2015.12.024

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