{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:54:30Z","timestamp":1791550470461,"version":"4.3.4"},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background\u2014<\/jats:italic>\n            <\/jats:bold>\n            Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant mode of inheritance, and male carriers are severely affected, whereas female carriers develop milder and later-onset cardiac symptoms. Danon disease has been associated with mutations in the lysosome-associated membrane glycoprotein 2 (\n            <jats:italic>LAMP2<\/jats:italic>\n            ) gene located at Xq24, typically resulting in splicing defects or protein truncation affecting the LAMP2. Because of its rarity, the full spectrum of genetic mutation resulting in Danon disease has not been elucidated.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods and Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            We analyzed 3 male cases with clinical and pathological findings consistent with Danon disease. Comprehensive mutational analysis failed to yield detectable products for selected\n            <jats:italic>LAMP2<\/jats:italic>\n            exons, and genomic DNA deletion was suspected. Genomic junction fragment polymerase chain reaction analysis in case 1 identified a novel\n            <jats:italic>Alu<\/jats:italic>\n            -mediated 34-kb microdeletion encompassing the entire 5\u2032-untranslated region and exon 1 of\n            <jats:italic>LAMP2<\/jats:italic>\n            . In case 2 and 3, junctional polymerase chain reaction and Southern blot analyses mapped the breakpoint to an MIRb and (TA)\n            <jats:sub>n<\/jats:sub>\n            simple repeats present in intron 3, which determined a 64-kb and a 58-kb deletion, respectively, thereby ablating exons 4 to 10. Western blot analysis confirmed the absence of LAMP2 in protein extract from lymphocytes of index case 2.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusion\u2014<\/jats:italic>\n            <\/jats:bold>\n            This article is the first report of Danon disease caused by microdeletions at Xq24, which functionally ablate LAMP2. The microdeletion mechanism appears to involve 1\n            <jats:italic>Alu<\/jats:italic>\n            -mediated unequal recombination and 2 chromosomal breakage points involving TA-rich repeat sequences.\n          <\/jats:p>","DOI":"10.1161\/circgenetics.109.901785","type":"journal-article","created":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T01:12:32Z","timestamp":1266801152000},"page":"129-137","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":33,"title":["LAMP2 Microdeletions in Patients With Danon Disease"],"prefix":"10.1161","volume":"3","author":[{"given":"Zhao","family":"Yang","sequence":"first","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit H.","family":"Funke","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda H.","family":"Cripe","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"G. Wesley","family":"Vick","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Mancini-Dinardo","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana S.","family":"Pen\u0303a","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Kanter","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda","family":"Wong","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandy H.","family":"Westerfield","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaquelin J.","family":"Varela","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxin","family":"Fan","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A.","family":"Towbin","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; Laboratory for Molecular Medicine Partners (B.H.F., D.M.-D.), Center for Personalized Genetic Medicine, Cambridge, Mass; Department of Pediatrics and Pediatric Cardiology (L.H.C., B.R., J.A.T.), Heart Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio; Department..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Vatta","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics (Cardiology) (Z.Y., G.W.V., L.S.P., B.H.W., J.J.V., Y.F., M.V.), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children\u2019s Hospital, Houston, Tex; 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