{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:42:01Z","timestamp":1759970521786,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T00:00:00Z","timestamp":1737417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004329","name":"The Slovenian Research and Innovation Agency","doi-asserted-by":"publisher","award":["P3-0343"],"award-info":[{"award-number":["P3-0343"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: The microtubule-associated scaffold protein 1 (MTUS1) gene affects the microtubule stability and cell polarity in the heart and could thus lead to the development of left ventricular noncompaction (LVNC). Pathological gene variants in MTUS1 are associated with pathological phenotypes in both cell cultures and animal models. However, the literature lacks human studies on the specific effects of the MTUS1 gene in heart disease, particularly in congenital LVNC. Methods: We present a case of a male infant, diagnosed with LVNC, who passed away at the age of 8 months due to end-stage heart failure. In the investigation process of the etiology of LVNC, whole-genome sequencing using next-generation sequencing was performed in the patient and his first-degree family members. Results: Genetic analysis identified two heterozygous variants in the MTUS1 gene (NM_001363059.2:c.87C&gt;G and NM_001363059.2:c.2449+421_2288-425del) in the presented patient. The first variant introduced an early stop codon, while the second caused the deletion of an entire exon, both of which significantly altered the protein structure. The older brother of the patient, at the age of 5 years, was a carrier of both variants; however, he was asymptomatic and without signs of heart disease on cardiac ultrasonography. Conclusions: Although, in theory, defects in the MTUS1 gene may contribute to the development of LVNC, our observations indicate that MTUS1 variants alone are not sufficient to cause LVNC or lead to any significant developmental disorder. Additional factors, whether genetic or environmental, are likely necessary for the clinical manifestation of LVNC.<\/jats:p>","DOI":"10.3390\/genes16020110","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T04:19:51Z","timestamp":1737433191000},"page":"110","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy\u2014A Case Report"],"prefix":"10.3390","volume":"16","author":[{"given":"Tev\u017e","family":"Gorjanc","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7843-8107","authenticated-orcid":false,"given":"Jaka","family":"\u0160ikonja","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, Division of Medicine, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0506-2919","authenticated-orcid":false,"given":"Ana","family":"Drole Torkar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Center for Rare Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3304-5120","authenticated-orcid":false,"given":"Mojca","family":"\u017derjav Tan\u0161ek","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3080-4838","authenticated-orcid":false,"given":"Jernej","family":"Kova\u010d","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Bertok","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Center for Rare Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maru\u0161a","family":"Debeljak","sequence":"additional","affiliation":[{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zvezdana","family":"Dolenc-Stra\u017ear","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5907-6929","authenticated-orcid":false,"given":"Marija","family":"Meznari\u010d","sequence":"additional","affiliation":[{"name":"Institute of Anatomy, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jernej","family":"Mlakar","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5007-9481","authenticated-orcid":false,"given":"Mirko","family":"Topalovi\u0107","sequence":"additional","affiliation":[{"name":"Cardiology Department, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gorazd","family":"Mlakar","sequence":"additional","affiliation":[{"name":"Cardiology Department, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0273-4732","authenticated-orcid":false,"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5246-9869","authenticated-orcid":false,"given":"Urh","family":"Gro\u0161elj","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"},{"name":"Center for Rare Diseases, University Children\u2019s Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.gene.2006.05.021","article-title":"Structural Organization and Expression of Human MTUS1, a Candidate 8p22 Tumor Suppressor Gene Encoding a Family of Angiotensin II AT2 Receptor-Interacting Proteins, ATIP","volume":"380","author":"Deshayes","year":"2006","journal-title":"Gene"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e003521","DOI":"10.1161\/JAHA.116.003521","article-title":"Identification of the Mtus1 Splice Variant as a Novel Inhibitory Factor Against Cardiac Hypertrophy","volume":"5","author":"Ito","year":"2016","journal-title":"J. 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