Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

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ID: 96329
2020
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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 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 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.
Reference Key
aunghtut2020novelgenes Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Aung-Htut, May T;Ham, Kristin A;Tchan, Michel C;Fletcher, Sue;Wilton, Steve D;
Journal genes
Year 2020
DOI
E135
URL
Keywords
acid α-glucosidase gaa mutation adult-onset pompe disease

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