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

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• 作者：Paolo Colomba^a ; ^{paolocolomba@gmail.com} ; Antonia Nucera^b ; ^{nucerantonia@gmail.com} ; Carmela Zizzo^a ; ^{zizzo@ibim.cnr.it} ; Giuseppe Albeggiani^a ; ^{giuseppe.albeggiani@ibim.cnr.it} ; Daniele Francofonte^a ; ^{francofonte@ibim.cnr.it} ; Francesco Iemolo^a ; ^c ; ^{f.iemolo@tin.it} ; Antonino Tuttolomondo^d ; ^{brunotutto@inwind.it} ; Antonio Pinto^d ; ^{antonio.pinto@unipa.it} ; Giovanni Duro^a ; ^{duro@ibim.cnr.it}
• 关键词：Fabry disease ; Alpha-galactosidase A ; High resolution melting ; Mutation c.614delC
• 刊名：Clinical Biochemistry
• 出版年：2012
• 出版时间：July, 2012
• 年：2012
• 卷：45
• 期：10-11
• 页码：839-841
• 全文大小：243 K

文摘

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.