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Although most cases of DCM are classified as sporadic, 20\u201330% of cases show a heritable pattern. Familial forms of DCM are genetically heterogeneous, and mutations in several genes have been identified that most commonly play a role in cytoskeleton and sarcomere-associated processes. Still, a large number of familial cases remain unsolved. Here, we report five individuals from three independent families who presented with severe dilated cardiomyopathy during the neonatal period. Using whole-exome sequencing (WES), we identified causative, compound heterozygous missense variants in <jats:italic>RPL3L<\/jats:italic> (ribosomal protein L3-like) in all the affected individuals. The identified variants co-segregated with the disease in each of the three families and were absent or very rare in the human population, in line with an autosomal recessive inheritance pattern. They are located within the conserved RPL3 domain of the protein and were classified as deleterious by several <jats:italic>in silico<\/jats:italic> prediction software applications. <jats:italic>RPL3L<\/jats:italic> is one of the four non-canonical riboprotein genes and it encodes the 60S ribosomal protein L3-like protein that is highly expressed only in cardiac and skeletal muscle. Three-dimensional homology modeling and <jats:italic>in silico<\/jats:italic> analysis of the affected residues in RPL3L indicate that the identified changes specifically alter the interaction of RPL3L with the RNA components of the 60S ribosomal subunit and thus destabilize its binding to the 60S subunit. In conclusion, we report that bi-allelic pathogenic variants in <jats:italic>RPL3L<\/jats:italic> are causative of an early-onset, severe neonatal form of dilated cardiomyopathy, and we show for the first time that cytoplasmic ribosomal proteins are involved in the pathogenesis of non-syndromic cardiomyopathies.<\/jats:p>","DOI":"10.1007\/s00439-020-02188-6","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T12:05:40Z","timestamp":1591617940000},"page":"1443-1454","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome 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Nat Rev Mol Cell Biol 13:355\u2013369","journal-title":"Nat Rev Mol Cell Biol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-020-02188-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-020-02188-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-020-02188-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T23:56:24Z","timestamp":1623110184000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-020-02188-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,8]]},"references-count":34,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["2188"],"URL":"https:\/\/doi.org\/10.1007\/s00439-020-02188-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,8]]},"assertion":[{"value":"9 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All studies were performed in accordance with the Declaration of Helsinki protocols. The studies were reviewed and approved by local institutional ethics boards (Columbia University Irving Medical Center, USA; University Medical Center G\u00f6ttingen, Germany; Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i\u2009+\u200912), Spain).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Subjects or their legal representatives participating in this study gave written informed consent to diagnostic and research DNA tests regarding dilated cardiomyopathy.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Subjects or their legal representatives participating in this study provided written consent for publication of the results.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Written consent forms of the participating subjects or their legal representatives, alive or deceased, are available upon request. The raw whole-exome sequencing data are not publicly available due to privacy or ethical restrictions. Processed genetic data generated or analyzed within this study are available upon request.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and material"}},{"value":"Not applicable","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}