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

P. R. Joshi, D. Gläser, S. Schmidt, M. Vorgerd, M. Winterholler, K. Eger, S. Zierz, M. Deschauer

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34 Scopus citations


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.

Original languageEnglish
Pages (from-to)S261-S265
JournalJournal of Inherited Metabolic Disease
Issue numberSUPPL. 2
StatePublished - Dec 2008
Externally publishedYes


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