{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T13:51:56Z","timestamp":1781531516996,"version":"3.54.5"},"reference-count":19,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T00:00:00Z","timestamp":1580169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian National Health and Medical Research Council","award":["APP 1086311"],"award-info":[{"award-number":["APP 1086311"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid \u03b1-1,4-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&gt;T and c.1910_1918del, and a previously reported c.1082C&gt;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&gt;G mutation. The c.2074 C&gt;T nonsense mutation has obvious consequences on GAA expression but the c.1910_1918del (deletion of 3 amino acids) and c.1082C&gt;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.<\/jats:p>","DOI":"10.3390\/genes11020135","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T09:37:09Z","timestamp":1580204229000},"page":"135","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Mutations Found in Individuals with Adult-Onset Pompe Disease"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6379-2303","authenticated-orcid":false,"given":"May T.","family":"Aung-Htut","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia"},{"name":"Perron Institute for Neurological and Translational Science and The University of Western Australia, Perth 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin A.","family":"Ham","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9700-7898","authenticated-orcid":false,"given":"Michel C.","family":"Tchan","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Westmead Hospital, Sydney 2145, Australia"},{"name":"Sydney Medical School, The University of Sydney, Sydney 2006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8632-641X","authenticated-orcid":false,"given":"Sue","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve D.","family":"Wilton","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia"},{"name":"Perron Institute for Neurological and Translational Science and The University of Western Australia, Perth 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,28]]},"reference":[{"key":"ref_1","first-page":"304","article-title":"Over idiopatsche hypertrophie van het hart","volume":"76","author":"Pompe","year":"1932","journal-title":"Ned. 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Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk","volume":"113","author":"Kamphoven","year":"2004","journal-title":"Pediatrics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.22108","article-title":"Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants","volume":"33","author":"Kroos","year":"2012","journal-title":"Hum. Mutat."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/2\/135\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:20:45Z","timestamp":1760361645000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/2\/135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,28]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,2]]}},"alternative-id":["genes11020135"],"URL":"https:\/\/doi.org\/10.3390\/genes11020135","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,28]]}}}