{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:40:12Z","timestamp":1775306412460,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T00:00:00Z","timestamp":1584403200000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Investigation"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Importance<\/jats:title><jats:p>Pathogenic variants in the <jats:italic>RBM20<\/jats:italic> gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, <jats:italic>RBM20<\/jats:italic> was found to be associated with left ventricular non\u2010compaction cardiomyopathy (LVNC). Thus far, only five families with LVNC have been reported to carry variants in <jats:italic>RBM20<\/jats:italic>. It remains unknown whether the variants in <jats:italic>RBM20<\/jats:italic> associated with DCM can also cause LVNC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To elucidate the causative <jats:italic>RBM20<\/jats:italic> variant in two unrelated patients with both LVNC and DCM, and to identify the clinical characteristics associated with variants in <jats:italic>RBM20<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio whole\u2010exome sequencing (WES) was performed. Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified two distinct <jats:italic>de novo<\/jats:italic> variants in <jats:italic>RBM20<\/jats:italic> (one per patient) in these two patients with LVNC. Both variants have been reported in patients with DCM, without the LVNC phenotype. Patient 1 was an 11\u2010year\u2010old girl who had DCM, LVNC, and heart failure; the ratio of noncompacted\u2010to\u2010compacted myocardium was 2.7:1. A <jats:italic>de novo<\/jats:italic> heterozygous variant c.1907G&gt;A (p.Arg636His) in exon 9 was identified in this patient. Patient 2 was a 13\u2010year\u2010old boy who had clinical phenotypes identical to those of Patient 1; the ratio of noncompacted\u2010to\u2010compacted myocardium was 3.2:1 in this patient. WES revealed a <jats:italic>de novo<\/jats:italic> heterozygous variant c.1909A&gt;G (p.Ser637Gly) in exon 9. Both variants were previously characterized as pathogenic, and our study classified them as pathogenic variants based on the ACMG guidelines.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We found that two patients with LVNC had variants in <jats:italic>RBM20<\/jats:italic>. Our results extended the clinical spectrum of the two <jats:italic>RBM20<\/jats:italic> variants and illustrated that the same variant in <jats:italic>RBM20<\/jats:italic> can cause DCM, with or without the LVNC phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ped4.12183","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T17:43:01Z","timestamp":1584466981000},"page":"11-16","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Whole\u2010exome sequencing reveals two <i>de novo<\/i> variants in the <i>RBM20<\/i> gene in two Chinese patients with left ventricular non\u2010compaction cardiomyopathy"],"prefix":"10.1002","volume":"4","author":[{"given":"Qiqing","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Cardiology Children\u2019s Hospital Affiliated to Zhengzhou University, Henan Children\u2019s Hospital, Zhengzhou Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Guo","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanjuan","family":"Hao","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruolan","family":"Guo","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuyun","family":"Hu","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanying","family":"Chen","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weili","family":"Yang","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; Metabolic Diseases Henan Children\u2019s Hospital Zhengzhou Hospital of Beijing Children\u2019s Hospital Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children\u2019s Hospital Capital Medical University, National Center for Children\u2019s Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric  Inherited &amp; 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