{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T02:05:04Z","timestamp":1780625104185,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,3]],"date-time":"2019-07-03T00:00:00Z","timestamp":1562112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31830054"],"award-info":[{"award-number":["31830054"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["91539204"],"award-info":[{"award-number":["91539204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that <jats:italic>CASZ1<\/jats:italic> loss\u2010of\u2010function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in <jats:italic>CASZ1<\/jats:italic> have been previously reported worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To identify the causative variant in an 11\u2010month\u2010old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio\u2010whole\u2010exome sequencing was performed followed by mutational analysis and Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>An unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in <jats:italic>CASZ1<\/jats:italic> was idenitified\u00a0in the proband. The frameshift mutation in <jats:italic>CASZ1<\/jats:italic> not only led to DCM but also presented an LVNC phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have identified a novel <jats:italic>CASZ1<\/jats:italic> variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of <jats:italic>CASZ1<\/jats:italic> variants. Furthermore, this study emphasized the usefulness of whole\u2010exome sequencing for genetic diagnosis of cardiomyopathy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.828","type":"journal-article","created":{"date-parts":[[2019,7,3]],"date-time":"2019-07-03T11:09:00Z","timestamp":1562152140000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["A novel de novo <i>CASZ1<\/i> heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3685-939X","authenticated-orcid":false,"given":"Jun","family":"Guo","sequence":"first","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's Hospital Capital Medical University, National Center for Children's Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric Inherited &amp; Metabolic Diseases, Henan Children's Hospital Zhengzhou Hospital of Beijing Children's Hospital Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Li","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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's Hospital Capital Medical University, National Center for Children's Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric Inherited &amp; Metabolic Diseases, Henan Children's Hospital Zhengzhou Hospital of Beijing Children's Hospital Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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's Hospital Capital Medical University, National Center for Children's Health Beijing China"},{"name":"Henan Key Laboratory of Pediatric Inherited &amp; 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