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


ABSTRACT: Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid ?-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.

SUBMITTER: Aung-Htut MT 

PROVIDER: S-EPMC7073677 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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

Aung-Htut May T MT   Ham Kristin A KA   Tchan Michel C MC   Fletcher Sue S   Wilton Steve D SD  

Genes 20200128 2


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 <i>GAA</i> 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 unre  ...[more]

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