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Novel mutations found in individuals with adult-onset Pompe disease
Journal article   Open access   Peer reviewed

Novel mutations found in individuals with adult-onset Pompe disease

M.T. Aung-Htut, K.A. Ham, M.C. Tchan, S. Fletcher and S.D. Wilton
Genes, Vol.11(2), Article 135
2020
DOI: https://doi.org/10.3390/genes11020135
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Abstract

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.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.271 Lysosomal Storage Disorders
1.271.673 Enzyme Replacement Therapy
Web Of Science research areas
Genetics & Heredity
ESI research areas
Molecular Biology & Genetics
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