Novel mutations found in individuals with adult-onset pompe disease

May T. Aung-Htut, Kristin A. Ham, Michel C. Tchan, Sue Fletcher, Steve D. Wilton

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Article number135
Issue number2
Publication statusPublished - 1 Feb 2020


Dive into the research topics of 'Novel mutations found in individuals with adult-onset pompe disease'. Together they form a unique fingerprint.

Cite this