title: Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
abstract: BACKGROUND
  Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes. The wide clinical variability is resulted from genetic heterogeneity, and many different mutations of the GAA gene have been reported. Some of these mutations are associated with specific phenotypes, such as the c. -32T>G (IVS1-13T>G) mutation seen in late-onset Pompe disease.
  
  
  METHODS
  We used a real-time PCR, after genomic DNA extraction isolated from DBS (dried blood spots) and PCR amplification.
  
  
  RESULTS
  Our results successfully detected in controls and patients have been 100% concordant with sequencing results.
  
  
  CONCLUSIONS
  This assay combines simple sample processing and rapid analysis and it allows to detect the patients with a milder form and slower progression of this disease with a high reliability.
authors.forename: Joaquin
authors.initials: J
authors.lastname: Bobillo Lobato
authors.forename: Blas A
authors.initials: BA
authors.lastname: Sánchez Peral
authors.forename: Pilar
authors.initials: P
authors.lastname: Durán Parejo
authors.forename: Luis M
authors.initials: LM
authors.lastname: Jiménez Jiménez
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D059788:Dried Blood Spot Testing; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D060888:Real-Time Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D013696:Temperature
chemical_list: D004247:DNA