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Novel mutations found in individuals with adult-onset Pompe disease

Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Tchan, M.C., Fletcher, S. and Wilton, S.D. (2020) Novel mutations found in individuals with adult-onset Pompe disease. Genes, 11 (2). Article 135.

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Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-1,4-glucosidase enzyme (GAA). The severity of disease and observed time of onset is subject to the various combinations of heterozygous GAA alleles. Here we have characterized two novel mutations: c.2074C>T and c.1910_1918del, and a previously reported c.1082C>G mutation of uncertain clinical significance. These mutations were found in three unrelated patients with adult-onset Pompe disease carrying the common c.-32-13T>G mutation. The c.2074 C>T nonsense mutation has obvious consequences on GAA expression but the c.1910_1918del (deletion of 3 amino acids) and c.1082C>G missense variants are more subtle DNA changes with catastrophic consequences on GAA activity. Molecular and clinical analyses from the three patients corresponded with the anticipated pathogenicity of each mutation.

Item Type: Journal Article
Murdoch Affiliation(s): Centre for Molecular Medicine and Innovative Therapeutics (CMMIT)
Publisher: MDPI
Copyright: © 2020 by the authors
United Nations SDGs: Goal 3: Good Health and Well-Being
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