Molecular diagnosis of German patients with late-onset glycogen storage disease type II

J Inherit Metab Dis. 2008 Dec:31 Suppl 2:S261-5. doi: 10.1007/s10545-008-0820-2. Epub 2008 Jul 10.


In patients with late-onset glycogen storage disease type II, one mutation, c.-32-13T>G, in the α-glucosidase (GAA) gene is identified frequently in European populations from different regions along with many rarer mutations. We have performed molecular genetic investigations in 18 German index patients with late-onset disease. The c.-32-13T>G, c.525delT (p.Glu176fsX45), and c.2481+102_2646+31del mutations were detected by PCR/restriction enzyme digest. Other mutations were detected by sequencing. All patients were compound heterozygous and 17 patients harboured the c.-32-13T>G mutation. Seven other previously described mutations (including the c.-32-13T>G) were identified, of which the p.C103G (c.307T>G) and the c.2481+102_2646+31del mutations were present each in three unrelated patients. Sequencing revealed five novel mutations.

Conclusions: Genetic testing was able to identify the genetic defects in all patients and screening of the c.-32-13T>G mutation identified 94% of the cases. This is important for quick and reliable diagnosis, especially in view of enzyme replacement. Among the rarer mutations, c.2481+102_2646+31del and p.C103G are rather frequent in Germany.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Case-Control Studies
  • DNA Mutational Analysis
  • Exons
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Germany / epidemiology
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / ethnology
  • Glycogen Storage Disease Type II / genetics
  • Heterozygote
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • Predictive Value of Tests
  • Young Adult
  • alpha-Glucosidases / genetics*


  • GAA protein, human
  • alpha-Glucosidases