{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T14:18:18Z","timestamp":1765808298021,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health Ricerca Corrente 2022\u20132024"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Pathogenic variants in the deleted in colorectal cancer gene (DCC), encoding the Netrin-1 receptor, may lead to mirror movements (MMs) associated with agenesis\/dysgenesis of the corpus callosum (ACC) and cognitive and\/or neuropsychiatric issues. The clinical phenotype is related to the biological function of DCC in the corpus callosum and corticospinal tract development as Netrin-1 is implicated in the guidance of developing axons toward the midline. We report on a child with a novel inherited, monoallelic, pathogenic variant in the DCC gene. Methods: Standardized measures and clinical scales were used to assess psychomotor development, communication and social skills, emotional and behavioural difficulties. MMs were measured via the Woods and Teuber classification. Exome sequencing was performed on affected and healthy family members. Results: The patient\u2019s clinical presentation during infancy consisted of paroxysmal dystonic posturing when asleep, mimicking nocturnal leg cramps. A brain magnetic resonance imaging (MRI) showed complete ACC. He developed typical upper limb MMs during childhood and a progressively evolving neuro-phenotype with global development delay and behavioural problems. We found an intrafamilial clinical variability associated with DCC mutations: the proband\u2019s father and uncle shared the same DCC variant, with a milder clinical phenotype. The atypical early clinical presentation of the present patient expands the clinical spectrum associated with DCC variants, especially those in the paediatric age. Conclusions: This study underlines the importance of in-depth genetic investigations in young children with ACC and highlights the need for further detailed analyses of early motor symptoms in infants with DCC mutations.<\/jats:p>","DOI":"10.3390\/jcm13041109","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T03:37:27Z","timestamp":1708054647000},"page":"1109","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1083-7915","authenticated-orcid":false,"given":"Adriana","family":"Prato","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Cirnigliaro","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Maugeri","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8397-3478","authenticated-orcid":false,"given":"Antonina","family":"Luca","sequence":"additional","affiliation":[{"name":"Department \u201cG.F. Ingrassia\u201d, Section of Neurosciences, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loretta","family":"Giuliano","sequence":"additional","affiliation":[{"name":"Department \u201cG.F. Ingrassia\u201d, Section of Neurosciences, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppina","family":"Vitiello","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6346-1988","authenticated-orcid":false,"given":"Edoardo","family":"Errichiello","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ennio","family":"Del Giudice","sequence":"additional","affiliation":[{"name":"Child Neurology, Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Mostile","sequence":"additional","affiliation":[{"name":"Department \u201cG.F. Ingrassia\u201d, Section of Neurosciences, University of Catania, 95123 Catania, Italy"},{"name":"Research Unit of Rare Diseases and Neurodevelopmental Disorders, OASI Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3997-1328","authenticated-orcid":false,"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-2686","authenticated-orcid":false,"given":"Rita","family":"Barone","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy"},{"name":"Research Unit of Rare Diseases and Neurodevelopmental Disorders, OASI Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.1002\/ajmg.a.32418","article-title":"Agenesis of the corpus callosum in California 1983\u20132003: A population-based study","volume":"146A","author":"Glass","year":"2008","journal-title":"Am. 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