{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:42:40Z","timestamp":1764996160236,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,3]],"date-time":"2019-02-03T00:00:00Z","timestamp":1549152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81200170"],"award-info":[{"award-number":["81200170"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["17411954400"],"award-info":[{"award-number":["17411954400"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Danon disease is an X\u2010linked dominant hereditary condition caused by mutations in the gene encoding lysosomal\u2010associated membrane protein 2 (<jats:styled-content style=\"fixed-case\">LAMP<\/jats:styled-content>2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe identification of a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">LAMP<\/jats:styled-content>2<\/jats:italic>, c.741+1G&gt;T, in a family with Danon disease by whole exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathology examination of patient skeletal muscle biopsy showed myogenic damage and autophagic vacuoles with sarcolemmal features (<jats:styled-content style=\"fixed-case\">AVSF<\/jats:styled-content>). Numerous autophagic vacuoles accumulated in muscle cells were detected by electron microscopy, indicating abnormal autophagy function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The mutation did not result in loss of <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> exons; rather, a 6\u2010nucleotide (two\u2010codon) insertion, where the latter was a stop codon, leading to early termination of <jats:styled-content style=\"fixed-case\">LAMP<\/jats:styled-content>2 protein translation. The resulting truncated protein lacks an important transmembrane domain, which will impair lysosome\/autophagosome fusion, damage autophagy function, and result in the clinical manifestations of Danon disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.561","type":"journal-article","created":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T05:49:04Z","timestamp":1549259344000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A family with Danon disease caused by a splice site mutation in <i><scp>LAMP<\/scp>2<\/i> that generates a truncated protein"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5306-4062","authenticated-orcid":false,"given":"Nianwei","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Echocardiography Zhongshan Hospital Shanghai Institute of Cardiovascular Disease Shanghai Institute of Medical Imaging Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Cardiology Zhongshan Hospital Shanghai Institute of Cardiovascular Disease Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weipeng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Echocardiography Zhongshan Hospital Shanghai Institute of Cardiovascular Disease Shanghai Institute of Medical Imaging Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingying","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Echocardiography Zhongshan Hospital Shanghai Institute of Cardiovascular Disease Shanghai Institute of Medical Imaging Fudan University Shanghai 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