title: Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
abstract: OBJECTIVE
  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).
  
  
  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.
authors.affiliation: Institute of Biomedicine and Molecular Immunology A. Monroy, National Research Council, Palermo, Italy. paolocolomba@gmail.com
authors.forename: Paolo
authors.initials: P
authors.lastname: Colomba
authors.forename: Antonia
authors.initials: A
authors.lastname: Nucera
authors.forename: Carmela
authors.initials: C
authors.lastname: Zizzo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Albeggiani
authors.forename: Daniele
authors.initials: D
authors.lastname: Francofonte
authors.forename: Francesco
authors.initials: F
authors.lastname: Iemolo
authors.forename: Antonino
authors.initials: A
authors.lastname: Tuttolomondo
authors.forename: Antonio
authors.initials: A
authors.lastname: Pinto
authors.forename: Giovanni
authors.initials: G
authors.lastname: Duro
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics*; D000795:Fabry Disease / Q000097:blood / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase