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Clin Biochem. 2012 Jul;45(10-11):839-41. doi: 10.1016/j.clinbiochem.2012.03.015. Epub 2012 Mar 19.

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

Author information

1
Institute of Biomedicine and Molecular Immunology A. Monroy, National Research Council, Palermo, Italy. paolocolomba@gmail.com

Abstract

OBJECTIVES:

Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD).

DESIGN AND METHODS:

We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood.

RESULTS:

In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation.

CONCLUSIONS:

Patients with the c.614delC mutation show classical clinical manifestations of FD, and the male patient has no alpha-galactosidase A activity. These data suggest that c.614delC is a novel mutation associated with FD.

[Indexed for MEDLINE]

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