{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:25:50Z","timestamp":1760149550902,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"},{"name":"Ricerca Corrente 2023"},{"name":"RC 5X1000"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in the tubulin-specific chaperon D (TBCD) gene, involved in the assembly and disassembly of the \u03b1\/\u03b2-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation. We describe a rare homozygous variant in TBCD, namely c.881G&gt;A\/p.Arg294Gln, in a young woman with a phenotype dominated by distal motorneuronopathy and mild mental retardation, with neuroimaging evidence of corpus callosum hypoplasia. The peculiar phenotype is discussed in light of the molecular interpretation, enriching the literature data on tubulinopathies generated from TBCD mutations.<\/jats:p>","DOI":"10.3390\/ijms241512386","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T11:08:43Z","timestamp":1691060923000},"page":"12386","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report"],"prefix":"10.3390","volume":"24","author":[{"given":"Maria","family":"Caputo","sequence":"first","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2566-3671","authenticated-orcid":false,"given":"Ilaria","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy"},{"name":"Clinical and Experimental PhD Program, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Fini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4260-0915","authenticated-orcid":false,"given":"Giulia","family":"Gianferrari","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Simonini","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Trovato","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9244-9782","authenticated-orcid":false,"given":"Jessica","family":"Mandrioli","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy"},{"name":"Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Zucchi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy"},{"name":"Neuroscience PhD Program, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/j.ajhg.2016.08.005","article-title":"Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy","volume":"99","author":"Miyake","year":"2016","journal-title":"Am. 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