Abstract
Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. The infantile-onset type is the most life-threatening form of this disease, in which most of patients suffer from cardiomyopathy and hypotonia in early infancy. In this study, a typical case of Pompe disease was reported in an Iranian patient using molecular analysis of the GAA gene. Our results revealed a new c.1824_1828dupATACG mutation in exon 13 of the GAA gene. In conclusion, with the finding of this novel mutation, the genotypic spectrum of Iranian patients with Pompe disease has been extended, facilitating the definition of disease-related mutations.
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Acknowledgments
We would like to thank Genzyme Company and their representative, Dr. Soheila Saadati, for their support in the diagnosis and treatment of Pompe patients. This work was supported by a grant from Dr. M. Houshmand, to whom we give our greatest appreciation.
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Aryani, O., Manshadi, M.D., Tondar, M. et al. A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). Mol Biol Rep 41, 6211–6214 (2014). https://doi.org/10.1007/s11033-014-3500-3
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DOI: https://doi.org/10.1007/s11033-014-3500-3