{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T01:04:17Z","timestamp":1777338257216,"version":"3.51.4"},"reference-count":25,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T00:00:00Z","timestamp":1666224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene. The clinical presentation was similar to the severe phenotype described in previous studies. Conclusions: In this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy.<\/jats:p>","DOI":"10.3390\/ijms232012506","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T00:43:52Z","timestamp":1666226632000},"page":"12506","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8831-1844","authenticated-orcid":false,"given":"Anna","family":"Orlova","sequence":"first","affiliation":[{"name":"SRC \u00abGenome\u00bb, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3761-8595","authenticated-orcid":false,"given":"Daria","family":"Guseva","sequence":"additional","affiliation":[{"name":"Counselling Unit, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-9093","authenticated-orcid":false,"given":"Oxana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"SRC \u00abGenome\u00bb, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia"},{"name":"Laboratory of Molecular Genetic Diagnosis 3, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1016\/j.jacc.2015.03.552","article-title":"Sudden Death in Childhood Cardiomyopathy: Results from a Long-Term National Population-Based Study","volume":"65","author":"Bharucha","year":"2015","journal-title":"J. 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