{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:30:32Z","timestamp":1789810232778,"version":"4.0.1"},"reference-count":51,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              Mutations in\n              <jats:italic>CAV3<\/jats:italic>\n              , coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long\u2013QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of\n              <jats:italic>CAV3<\/jats:italic>\n              mutations in a large cohort of patients with LQTS.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              Probands with LQTS (n=167) were screened for mutations in\n              <jats:italic>CAV3<\/jats:italic>\n              using direct DNA sequencing. A single proband (0.6%) was found to be a heterozygous carrier of a previously described missense mutation, caveolin-3:p.T78M. The proband was also a heterozygous carrier of the trafficking-deficient Kv11.1:p.I400N mutation. The caveolin-3:p.T78M mutation was found isolated in 3 family members, none of whom had a prolonged QT\n              <jats:sub>c<\/jats:sub>\n              interval. Coimmunoprecipitations of caveolin-3 and the voltage-gated potassium channel subunit (Kv11.1) were performed, and the electrophysiological classification of the Kv11.1 mutant was carried out by patch-clamp technique in human embryonic kidney 293 cells. Furthermore, the T-wave morphology was assessed in mutation carriers, double mutation carriers, and nonmutation carriers by applying a morphology combination score. The morphology combination score was normal for isolated caveolin-3:p.T78M carriers and of LQT2 type in double heterozygotes.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              Mutations in\n              <jats:italic>CAV3<\/jats:italic>\n              are rare in LQTS. Furthermore, caveolin-3:p.T78M did not exhibit a LQTS phenotype. Because no association has ever been found between LQTS and isolated\n              <jats:italic>CAV3<\/jats:italic>\n              mutations, we suggest that LQTS9 is considered a provisional entity.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.113.000137","type":"journal-article","created":{"date-parts":[[2013,9,11]],"date-time":"2013-09-11T09:42:05Z","timestamp":1378892525000},"page":"452-461","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["The Role of\n            <i>CAV3<\/i>\n            in Long\u2013QT Syndrome"],"prefix":"10.1161","volume":"6","author":[{"given":"Paula L.","family":"Hedley","sequence":"first","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f8rgen K.","family":"Kanters","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Dembic","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Jespersen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lasse","family":"Skibsbye","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik H.","family":"Aidt","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ole","family":"Eschen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus","family":"Graff","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elijah R.","family":"Behr","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Schlamowitz","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Corfield","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"McKenna","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular Research,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Christiansen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut, Copenhagen, Denmark (P.L.H., M.D., F.H.A., S.S., M.C.); Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Cape Town, South Africa (P.L.H., V.C.); Institute of Biomedicine, University of Copenhagen, Copenhagen, Denmark (J.K.K., T.J., L.S.); Department of Cardiology, Center for Cardiovascular 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Heterozygote"],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":51,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1161\/CIRCGENETICS.113.000137"],"URL":"https:\/\/doi.org\/10.1161\/circgenetics.113.000137","relation":{},"ISSN":["1942-325X","1942-3268"],"issn-type":[{"value":"1942-325X","type":"print"},{"value":"1942-3268","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10]]}}}