{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:43:35Z","timestamp":1788911015662,"version":"build-2803163510"},"reference-count":48,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UCLA Children\u2019s Discovery and Innovation Institute \u201cSeed Award\u201d","award":["NIH\/NHLBI \u201c1R01 HL153853-01\u201d"],"award-info":[{"award-number":["NIH\/NHLBI \u201c1R01 HL153853-01\u201d"]}]},{"name":"UCLA Children\u2019s Discovery and Innovation Institute \u201cSeed Award\u201d","award":["NIH\/NHLBI R01 HL123078"],"award-info":[{"award-number":["NIH\/NHLBI R01 HL123078"]}]},{"name":"UCLA Children\u2019s Discovery and Innovation Institute \u201cSeed Award\u201d","award":["AHA835980"],"award-info":[{"award-number":["AHA835980"]}]},{"name":"UCLA Academic Senate Faculty Research Fund","award":["NIH\/NHLBI \u201c1R01 HL153853-01\u201d"],"award-info":[{"award-number":["NIH\/NHLBI \u201c1R01 HL153853-01\u201d"]}]},{"name":"UCLA Academic Senate Faculty Research Fund","award":["NIH\/NHLBI R01 HL123078"],"award-info":[{"award-number":["NIH\/NHLBI R01 HL123078"]}]},{"name":"UCLA Academic Senate Faculty Research Fund","award":["AHA835980"],"award-info":[{"award-number":["AHA835980"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere maturation and heart function. This process is regulated by the actin-binding proteins Leiomodins (LMODs), among which LMOD2 has recently been identified as a key regulator of thin filament elongation to reach a mature length. Few reports have implicated homozygous loss of function variants of LMOD2 in neonatal dilated cardiomyopathy (DCM) associated with thin filament shortening. We present the fifth case of DCM due to biallelic variants in the LMOD2 gene and the second case with the c.1193G&gt;A (p.W398*) nonsense variant identified by whole-exome sequencing. The proband is a 4-month male infant of Hispanic descent with advanced heart failure. Consistent with previous reports, a myocardial biopsy exhibited remarkably short thin filaments. However, compared to other cases of identical or similar biallelic variants, the patient presented here has an unusually late onset of cardiomyopathy during infancy. Herein, we present the phenotypic and histological features of this variant, confirm the pathogenic impact on protein expression and sarcomere structure, and discuss the current knowledge of LMOD2-related cardiomyopathy.<\/jats:p>","DOI":"10.3390\/cells12111455","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T10:51:56Z","timestamp":1684839116000},"page":"1455","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"12","author":[{"given":"Reiri","family":"Sono","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania M.","family":"Larrinaga","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alden","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Makhlouf","sequence":"additional","affiliation":[{"name":"Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuedong","family":"Kang","sequence":"additional","affiliation":[{"name":"Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Negar","family":"Khanlou","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1927-420X","authenticated-orcid":false,"given":"Ming-Sing","family":"Si","sequence":"additional","affiliation":[{"name":"Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary M.","family":"Satou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Halnon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UCLA Congenital Heart Defects-BioCore Faculty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen S.","family":"Van Arsdell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"},{"name":"Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol C.","family":"Gregorio","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA"},{"name":"Department of Medicine and Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanly","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"},{"name":"Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"},{"name":"Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2827-4068","authenticated-orcid":false,"given":"Marlin","family":"Touma","sequence":"additional","affiliation":[{"name":"Neonatal Congenital Heart Laboratory, 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