{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:47:25Z","timestamp":1787028445284,"version":"build-2736575974"},"reference-count":59,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T00:00:00Z","timestamp":1617667200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical Faculty of the Ruhr-University Bochum","award":["FoRUM- F937-18"],"award-info":[{"award-number":["FoRUM- F937-18"]}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["MI1146\/2-2"],"award-info":[{"award-number":["MI1146\/2-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Erich and Hanna Klessmann Foundation","award":["G\u00fctersloh"],"award-info":[{"award-number":["G\u00fctersloh"]}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["21-15-00382"],"award-info":[{"award-number":["21-15-00382"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2\u2013c.378+1G&gt;T) in the first patient and a nonsense mutation (DSG2\u2013p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.<\/jats:p>","DOI":"10.3390\/ijms22073786","type":"journal-article","created":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T21:44:47Z","timestamp":1617745487000},"page":"3786","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-2343","authenticated-orcid":false,"given":"Andreas","family":"Brodehl","sequence":"first","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5989-6233","authenticated-orcid":false,"given":"Alexey","family":"Meshkov","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9024-5364","authenticated-orcid":false,"given":"Roman","family":"Myasnikov","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4765-8021","authenticated-orcid":false,"given":"Anna","family":"Kiseleva","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3138-054X","authenticated-orcid":false,"given":"Olga","family":"Kulikova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e4rbel","family":"Klauke","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeniia","family":"Sotnikova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Stanasiuk","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6221-3659","authenticated-orcid":false,"given":"Mikhail","family":"Divashuk","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1513-8603","authenticated-orcid":false,"given":"Greta Marie","family":"Pohl","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8846-8481","authenticated-orcid":false,"given":"Maria","family":"Kudryavtseva","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Klingel","sequence":"additional","affiliation":[{"name":"Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tuebingen, Liebemeister-strasse 8, 72076 Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1363-8826","authenticated-orcid":false,"given":"Brenda","family":"Gerull","sequence":"additional","affiliation":[{"name":"Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6009-5775","authenticated-orcid":false,"given":"Sergey","family":"Koretskiy","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Schubert","sequence":"additional","affiliation":[{"name":"Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1266-4926","authenticated-orcid":false,"given":"Elena","family":"Mershina","sequence":"additional","affiliation":[{"name":"Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Pilus","sequence":"additional","affiliation":[{"name":"Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Thorsten","family":"Laser","sequence":"additional","affiliation":[{"name":"Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5649-2193","authenticated-orcid":false,"given":"Valentin","family":"Sinitsyn","sequence":"additional","affiliation":[{"name":"Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Boytsov","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Cardiology, 3\u2013ya Cherepkovskaya Street 15A, 121552 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0323-2635","authenticated-orcid":false,"given":"Oxana","family":"Drapkina","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Milting","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr\u2013University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3109\/15419061.2014.906533","article-title":"Desmosomes in the heart: A review of clinical and mechanistic analyses","volume":"21","author":"Patel","year":"2014","journal-title":"Cell Commun. 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