{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:24:07Z","timestamp":1787243047486,"version":"build-2736575974"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:00:00Z","timestamp":1614297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    <jats:italic>DNM1L<\/jats:italic>\n                    encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous missense mutations in\n                    <jats:italic>DNM1L<\/jats:italic>\n                    have been reported, which were characterized by devastating courses with refractory epilepsy, myoclonus, and brain atrophy on MRI. We describe a 4.5-year-old male child harboring a novel\n                    <jats:italic>de novo<\/jats:italic>\n                    mutation in\n                    <jats:italic>DNM1L<\/jats:italic>\n                    presenting a phenotype of developmental delay, ataxia, and peripheral neuropathy. The clinical features, magnetic resonance imaging findings, and genetic results were summarized. Meanwhile, all the cases of\n                    <jats:italic>DNM1L<\/jats:italic>\n                    mutations reported were reviewed.\n                    <jats:italic>DNM1L<\/jats:italic>\n                    variants may need to be considered in phenotypes that include global developmental delay, peripheral neuropathy, and ataxia.\n                  <\/jats:p>","DOI":"10.3389\/fped.2021.604105","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:22:47Z","timestamp":1614298967000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":22,"title":["Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy"],"prefix":"10.3389","volume":"9","author":[{"given":"Yanping","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1146\/annurev-genet-110410-132529","article-title":"Fusion and fission : interlinked processes critical for mitochondrial health","volume":"46","author":"Chan","year":"2012","journal-title":"Annu Rev Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1280","DOI":"10.1038\/emboj.2013.74","article-title":"(2013). Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein","volume":"32","author":"Fr\u00f6hlich","year":"","journal-title":"EMBO J."},{"key":"B3","doi-asserted-by":"publisher","first-page":"e71835","DOI":"10.1371\/journal.pone.0071835","article-title":"Functional mapping of human dynamin-1-like GTPase domain based on X-ray structure analyses","volume":"8","author":"Wenger","year":"2013","journal-title":"PLoS One."},{"key":"B4","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1016\/j.jpeds.2015.12.060","article-title":"Lethal disorder of mitochondrial fission caused by mutations in DNM1L","volume":"171","author":"Yoon","year":"2016","journal-title":"J Pediatr"},{"key":"B5","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1177\/0883073818778203","article-title":"De novo DNM1L variant in a teenager with progressive paroxysmal dystonia and lethal super-refractory myoclonic status 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