{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:14:49Z","timestamp":1790702089620,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T00:00:00Z","timestamp":1662508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, &lt;25 cases have been reported in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Findings<\/jats:title><jats:p>Here we report a new case of SOX6\u2010associated neurodegeneration and expand the phenotype to include ceratoconus. The clinical picture consisted of early onset mildly reduced intellectual function, facial asymmetry, and dystonic tremor of hands and neck, substantially improved by levodopa. Skeletal abnormalities included scoliosis and hypertrophy of the mandibular coronoid process. A heterozygous de novo loss\u2010of\u2010function variant in SOX6 (c.277 C&gt;T. p.Arg93*) was molecularly confirmed which leads to truncation of the SOX6 protein in its N\u2010terminus, upstream of any known functional domain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>SOX6\u2010associated neurodevelopmental delayis ultrarare with less than 25 cases described in the literature. We report a new case who presented with early\u2010onset mildly reduced intellectual function, facial asymmetry, skeletal abnormalities and dystonic tremor of hands and neck, substantially improved by levodopa. Given the therapeutic implications, SOX6 mutations should be considered in patients with complex dystonia parkinsonism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2051","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T08:54:51Z","timestamp":1662540891000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Neurodevelopmental disorder with dystonia due to <scp>SOX6<\/scp> mutations"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7283-1995","authenticated-orcid":false,"given":"Susanne A.","family":"Schneider","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital, Ludwig Maximilians Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Developmental Medicine, Social Pediatrics, Dr. von Hauner Children's Hospital LMU \u2010 University Hospital, Ludwig Maximilians Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[{"name":"Center for Genomics and Transcriptomics CeGaT GmbH and Praxis f\u00fcr Humangenetik T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urban M.","family":"Fietzek","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital, Ludwig Maximilians Universit\u00e4t  Munich Germany"},{"name":"Department of Neurology and Clinical Neurophysiology Sch\u00f6n Klinik M\u00fcnchen Schwabing  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas Sebastian","family":"Schroeder","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Developmental Medicine, Social Pediatrics, Dr. von Hauner Children's Hospital LMU \u2010 University Hospital, Ludwig Maximilians Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2019.06.003"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-021-09371-4"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.23258"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2021.07.006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.08.021"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103393"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12392"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0103-64402007000200017"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00298-7"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.07.016"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.04.007"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813514134"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.10.065"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.037820"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.015"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5011"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0657-0"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.014"}],"container-title":["Molecular Genetics &amp; 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