{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T09:17:28Z","timestamp":1775207848014,"version":"3.50.1"},"reference-count":37,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:00:00Z","timestamp":1624492800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"State assignment","award":["21021100127-8"],"award-info":[{"award-number":["21021100127-8"]}]},{"name":"Medical Faculty of the Ruhr-University Bochum","award":["FoRUM- F937-18"],"award-info":[{"award-number":["FoRUM- F937-18"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein\u20132, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC.<\/jats:p>","DOI":"10.3390\/ijms22136775","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T11:01:38Z","timestamp":1624532498000},"page":"6775","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9024-5364","authenticated-orcid":false,"given":"Roman","family":"Myasnikov","sequence":"first","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-2343","authenticated-orcid":false,"given":"Andreas","family":"Brodehl","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5989-6233","authenticated-orcid":false,"given":"Alexey","family":"Meshkov","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3138-054X","authenticated-orcid":false,"given":"Olga","family":"Kulikova","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4765-8021","authenticated-orcid":false,"given":"Anna","family":"Kiseleva","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeniia","family":"Sotnikova","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 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Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"},{"name":"Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Pokrovskaya","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6009-5775","authenticated-orcid":false,"given":"Sergey","family":"Koretskiy","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6855-4857","authenticated-orcid":false,"given":"Maria","family":"Kharlap","sequence":"additional","affiliation":[{"name":"National Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"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, 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