{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:15:40Z","timestamp":1787008540695,"version":"build-2736575974"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,12,12]],"date-time":"2020-12-12T00:00:00Z","timestamp":1607731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100002347","name":"German Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Juniorverbund in der Systemmedizin \u201cmitOmics","award":["FKZ 01ZX1405C"],"award-info":[{"award-number":["FKZ 01ZX1405C"]}]},{"name":"Juniorverbund in der Systemmedizin \u201cmitOmics","award":["#2435-0-0"],"award-info":[{"award-number":["#2435-0-0"]}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation","award":["418081722"],"award-info":[{"award-number":["418081722"]}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["#301221"],"award-info":[{"award-number":["#301221"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002243","name":"National Ataxia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002243","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Genome British Columbia and Genome Canada","award":["ABC4DE"],"award-info":[{"award-number":["ABC4DE"]}]},{"name":"Michael Smith Foundation for Health Foundation Research Scholar Award and a Foundation Metakids"},{"name":"Rubicon fellowship from the Netherlands Organization for Scientific Research (NWO"},{"DOI":"10.13039\/501100001826","name":"ZONMW","doi-asserted-by":"publisher","award":["452172015"],"award-info":[{"award-number":["452172015"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Network for Mitochondrial Disorders (mitoNET","award":["01GM1906B"],"award-info":[{"award-number":["01GM1906B"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Claudin-11, a tight junction protein, is indispensable in the formation of the radial component of myelin. Here, we report de novo stop-loss variants in the gene encoding claudin-11, CLDN11, in three unrelated individuals presenting with an early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Brain MRI showed a myelin deficit with a discrepancy between T1-weighted and T2-weighted images and some progress in myelination especially involving the central and peripheral white matter. Exome sequencing identified heterozygous stop-loss variants c.622T&amp;gt;C, p.(*208Glnext*39) in two individuals and c.622T&amp;gt;G, p.(*208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T&amp;gt;C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. Extended claudin-11 is predicted to form an alpha helix not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins. Our observations suggest that stop-loss variants in CLDN11 expand the genetically heterogeneous spectrum of hypomyelinating leukodystrophies.<\/jats:p>","DOI":"10.1093\/brain\/awaa410","type":"journal-article","created":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T15:14:59Z","timestamp":1604934899000},"page":"411-419","source":"Crossref","is-referenced-by-count":31,"title":["<i>De novo<\/i>\n                    stop-loss variants in\n                    <i>CLDN11<\/i>\n                    cause hypomyelinating leukodystrophy"],"prefix":"10.1093","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7503-5801","authenticated-orcid":false,"given":"Korbinian M","family":"Riedhammer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"},{"name":"Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler","sequence":"additional","affiliation":[{"name":"Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, The University of British Columbia, Vancouver, BC V6H 0B3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren","family":"Wenzel","sequence":"additional","affiliation":[{"name":"Genetikum, Genetic Counseling and Diagnostics, Neu-Ulm, 89231, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"Adis-Dutschmann","sequence":"additional","affiliation":[{"name":"Center for Pediatrics, Ulm, 89073, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Ahting","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, 80337, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"},{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Lee","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Hospital Research Institute, Department of Medical Genetics and Pediatrics, The University of British Columbia, Vancouver, BC V6H 0B3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Murcia Pienkowski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2847-1782","authenticated-orcid":false,"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Szymanska","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, 02-106, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Tarailo-Graovac","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada"},{"name":"Department of Biochemistry and Molecular Biology, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7391-9438","authenticated-orcid":false,"given":"Robin","family":"van der Lee","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Hospital Research Institute, Department of Medical Genetics and Pediatrics, The University of British Columbia, Vancouver, BC V6H 0B3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara D","family":"van Karnebeek","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Hospital Research Institute, Department of Medical Genetics and Pediatrics, The University of British Columbia, Vancouver, BC V6H 0B3, Canada"},{"name":"Department of Pediatric Metabolic Diseases, Amalia Children\u2019s Hospital, Radboud University Medical centre, Nijmegen, 6525 GA, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, 81675, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Kr\u00e4geloh-Mann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, T\u00fcbingen, 72076, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Dr. v. 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