{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T18:23:29Z","timestamp":1790274209433,"version":"4.1.0"},"reference-count":24,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health Ricerca Corrente (RCC)","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}]},{"name":"Italian Ministry of Health Ricerca Corrente (RCC)","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}]},{"name":"Italian Ministry of Health Ricerca Corrente (RCC)","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health Ricerca Finalizzata","doi-asserted-by":"publisher","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health Ricerca Finalizzata","doi-asserted-by":"publisher","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health Ricerca Finalizzata","doi-asserted-by":"publisher","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"E-Rare project GENOMIT","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}]},{"name":"E-Rare project GENOMIT","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}]},{"name":"E-Rare project GENOMIT","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]},{"name":"Foundation \u201cPierfranco e Luisa Mariani\u201d","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}]},{"name":"Foundation \u201cPierfranco e Luisa Mariani\u201d","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}]},{"name":"Foundation \u201cPierfranco e Luisa Mariani\u201d","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]},{"name":"The \u201cCell line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases\u201d of the Telethon Network of Genetic Biobanks","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}]},{"name":"The \u201cCell line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases\u201d of the Telethon Network of Genetic Biobanks","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}]},{"name":"The \u201cCell line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases\u201d of the Telethon Network of Genetic Biobanks","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]},{"name":"EuroBioBank Network","award":["RF-2016-02361241"],"award-info":[{"award-number":["RF-2016-02361241"]}]},{"name":"EuroBioBank Network","award":["ERP-2022-23682580"],"award-info":[{"award-number":["ERP-2022-23682580"]}]},{"name":"EuroBioBank Network","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic\u2013dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended.<\/jats:p>","DOI":"10.3390\/ijms25147782","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T15:05:51Z","timestamp":1721142351000},"page":"7782","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting"],"prefix":"10.3390","volume":"25","author":[{"given":"Beatrice","family":"Berti","sequence":"first","affiliation":[{"name":"Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Verrigni","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0640-9929","authenticated-orcid":false,"given":"Alessia","family":"Nasca","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Di Nottia","sequence":"additional","affiliation":[{"name":"Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00146 Rome, Italy"},{"name":"Neuromuscular Disorders Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Leone","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8148-9295","authenticated-orcid":false,"given":"Alessandra","family":"Torraco","sequence":"additional","affiliation":[{"name":"Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rizza","sequence":"additional","affiliation":[{"name":"Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-849X","authenticated-orcid":false,"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Legati","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Palermo","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Marchet","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza","family":"Lamperti","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio Maria","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy"},{"name":"Pediatric Neurology Unit, Universit\u00e0 Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico Silvio","family":"Bertini","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorders Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy"},{"name":"Pediatric Neurology Unit, Universit\u00e0 Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6564-3766","authenticated-orcid":false,"given":"Daniele","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy"},{"name":"Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3327-4054","authenticated-orcid":false,"given":"Rosalba","family":"Carrozzo","sequence":"additional","affiliation":[{"name":"Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1056\/NEJMra1215233","article-title":"Mitochondrial dynamics\u2014Mitochondrial fission and fusion in human diseases","volume":"369","author":"Archer","year":"2013","journal-title":"N. 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