{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:39:27Z","timestamp":1792658367098,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["Y24H020013"],"award-info":[{"award-number":["Y24H020013"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dilated cardiomyopathy type 2D (CMD2D) is a rare autosomal recessive disorder characterized by neonatal\u2010onset severe cardiomyopathy, rapid progression to cardiac decompensation, and high mortality, with heart transplantation being the only life\u2010saving intervention. Although mutations in\n                    <jats:italic>RPL3L<\/jats:italic>\n                    , a muscle\u2010specific ribosomal protein gene critical for cardiac and skeletal muscle function, are known to cause CMD2D, this disorder remains genetically and clinically undercharacterized. To date, only 13 patients with\n                    <jats:italic>RPL3L<\/jats:italic>\n                    \u2010related CMD2D have been reported, with nearly all of whom are attributed to compound missense mutations. Using whole exome sequencing, we identified an infant with fulminant DCM and severe acute heart failure who carried compound heterozygous\n                    <jats:italic>RPL3L<\/jats:italic>\n                    variants: c.346C&gt;T (p.R116C) and c.605A&gt;G (p.E202G). Histopathological analysis revealed cardiomyocyte death, collagen deposition, disturbed mitochondrial structure, and deregulated sarcomeres. Computational protein modeling demonstrated these mutations induce conformational changes in RPL3L, suggesting potential functional relevance. This case expands the mutational spectrum of CMD2D and emphasizes the need for further genotype\u2013phenotype correlations to elucidate the pathogenesis of this lethal disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64225","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T03:41:22Z","timestamp":1755488482000},"page":"199-204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Compound Heterozygous Missense Variants in\n                    <scp>\n                      <i>RPL3L<\/i>\n                    <\/scp>\n                    Gene Associated With Neonatal Dilated Cardiomyopathy"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6810-3346","authenticated-orcid":false,"given":"Xianghong","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Cardiac Intensive Care Unit Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology The First Affiliated Hospital, Zhejiang University School of Medicine  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8353-1244","authenticated-orcid":false,"given":"Hongyu","family":"Chen","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyi","family":"Jiang","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhong","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihua","family":"Yuan","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengxia","family":"Li","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Cardiac Intensive Care Unit Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8693-5987","authenticated-orcid":false,"given":"Lan","family":"Yu","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.002969"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.25294"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty560"},{"issue":"10","key":"e_1_2_8_5_1","first-page":"1495","article-title":"Compound Heterozygous Missense Variants in RPL3L Genes Associated With Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review","volume":"9","author":"Das B. 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