{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:52:05Z","timestamp":1789710725476,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T00:00:00Z","timestamp":1584748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI17\/00487"],"award-info":[{"award-number":["PI17\/00487"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole\u2010exome sequence uncovered a de novo variant in the microtubule associated serine\/threonine kinase 1 gene (<jats:italic>MAST1<\/jats:italic>; NM_014975.3:c.1565G&gt;A:p.(Gly522Glu)) that encodes for the MAST1. Only 12 patients have been identified worldwide with 10 different variants in this gene: six patients with mega\u2010corpus\u2010callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. Our patient shows a new phenotypic subtype defined by mega\u2010corpus\u2010callosum syndrome with cortical malformations without cerebellar hypoplasia. In conclusion, our data expand the phenotypic spectrum associated to <jats:italic>MAST1<\/jats:italic> gene variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.61560","type":"journal-article","created":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T15:14:38Z","timestamp":1584803678000},"page":"1483-1490","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>MAST1<\/i> variant causes mega\u2010corpus\u2010callosum syndrome with cortical malformations but without cerebellar hypoplasia"],"prefix":"10.1002","volume":"182","author":[{"given":"Mar\u00eda Elena","family":"Rodr\u00edguez\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Javier","family":"Cotrina\u2010Vinagre","sequence":"additional","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda de los \u00c1ngeles","family":"G\u00f3mez\u2010Cano","sequence":"additional","affiliation":[{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Enfermedades Mitocondriales y Metab\u00f3licas Hereditarias, Hospital 12 de Octubre  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Mart\u00ednez de Arag\u00f3n","sequence":"additional","affiliation":[{"name":"Servicio de Radiolog\u00eda, Secci\u00f3n de Neurorradiolog\u00eda, Hospital 12 de Octubre  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Mart\u00edn\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"},{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Enfermedades Mitocondriales y Metab\u00f3licas Hereditarias, Hospital 12 de Octubre  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6250-7745","authenticated-orcid":false,"given":"Francisco","family":"Mart\u00ednez\u2010Azor\u00edn","sequence":"additional","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-019-01415-8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0433-1"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406051200"},{"key":"e_1_2_10_5_1","unstructured":"Fern\u00e1ndez C. 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