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Novel Mutations Found in Individuals with Adult-Onset Pompe Disease

Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia
Perron Institute for Neurological and Translational Science and The University of Western Australia, Perth 6009, Western Australia, Australia
Genetic Medicine, Westmead Hospital, Sydney 2145, Australia
Sydney Medical School, The University of Sydney, Sydney 2006, Australia
Author to whom correspondence should be addressed.
Contributed equally.
Genes 2020, 11(2), 135;
Received: 1 November 2019 / Revised: 19 December 2019 / Accepted: 23 January 2020 / Published: 28 January 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
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.
Keywords: acid α-glucosidase; adult-onset Pompe disease; GAA mutation acid α-glucosidase; adult-onset Pompe disease; GAA mutation
MDPI and ACS Style

Aung-Htut, M.T.; Ham, K.A.; Tchan, M.C.; Fletcher, S.; Wilton, S.D. Novel Mutations Found in Individuals with Adult-Onset Pompe Disease. Genes 2020, 11, 135.

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