{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:40:50Z","timestamp":1759970450746,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T00:00:00Z","timestamp":1737244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.<\/jats:p>","DOI":"10.3390\/ijms26020809","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T06:53:32Z","timestamp":1737442412000},"page":"809","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9290-1161","authenticated-orcid":false,"given":"Ant\u00f3nio","family":"Costa","sequence":"first","affiliation":[{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio, 4099-001 Porto, Portugal"}]},{"given":"Diogo","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio, 4099-001 Porto, Portugal"}]},{"given":"Maria Jo\u00e3o","family":"Malaquias","sequence":"additional","affiliation":[{"name":"Department of Neurology, Unidade Local de Sa\u00fade de Gaia\/Espinho, 4434-502 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0409-959X","authenticated-orcid":false,"given":"Ana Filipa","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"CGPP\u2014Centro de Gen\u00e9tica Preditiva e Preventiva, IBMC\u2014Instituto de Biologia Molecular e Celular, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3924-6385","authenticated-orcid":false,"given":"Jorge","family":"Oliveira","sequence":"additional","affiliation":[{"name":"CGPP\u2014Centro de Gen\u00e9tica Preditiva e Preventiva, IBMC\u2014Instituto de Biologia Molecular e Celular, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Laboratory of Cell Biology, Department of Microscopy, ICBAS\u2014Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal"},{"name":"UMIB\u2014Unit for Multidisciplinary Research in Biomedicine, ICBAS\/ITR-Laboratory for Integrative and Translational Research in Population Health, Universidade do Porto, 4050-313 Porto, Portugal"}]},{"given":"Marina","family":"Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio, 4099-001 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"300","DOI":"10.5603\/PJNNS.a2021.0038","article-title":"Movement disorders associated with chromosomal aberrations diagnosed in adult patients","volume":"55","author":"Figura","year":"2021","journal-title":"Neurol. Neurochir. Pol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1111\/j.1469-8749.2012.04287.x","article-title":"Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: A single-centre study","volume":"54","author":"Dale","year":"2012","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1001\/archneurol.2011.802","article-title":"Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism","volume":"69","author":"Garraux","year":"2012","journal-title":"Arch. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1002\/mds.28663","article-title":"Tremor and Parkinsonism in Chromosomopathies\u2014A Systematic Review","volume":"36","author":"Carvalho","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/mdc3.12707","article-title":"Spectrum of Movement Disorders in 18p Deletion Syndrome","volume":"6","author":"Crosiers","year":"2019","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/s11910-021-01095-1","article-title":"Genetic Dystonias: Update on Classification and New Genetic Discoveries","volume":"21","author":"Mencacci","year":"2021","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s13760-022-02144-3","article-title":"X-linked dystonia parkinsonism: Epidemiology, genetics, clinical features, diagnosis, and treatment","volume":"123","author":"Chin","year":"2023","journal-title":"Acta Neurol. Belg."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1055\/s-0039-1692141","article-title":"Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene","volume":"50","author":"Giacomini","year":"2019","journal-title":"Neuropediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1097\/YCO.0000000000000388","article-title":"Lesch-Nyhan syndrome and its variants: Examining the behavioral and neurocognitive phenotype","volume":"31","author":"Harris","year":"2018","journal-title":"Curr. Opin. Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e265","DOI":"10.1212\/NXG.0000000000000265","article-title":"Genetic landscape of pediatric movement disorders and management implications","volume":"4","author":"Cordeiro","year":"2018","journal-title":"Neurol. Genet."},{"key":"ref_11","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1002\/ajmg.a.36371","article-title":"Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene","volume":"164A","author":"Martinez","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.tjog.2017.04.023","article-title":"Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1","volume":"56","author":"Chen","year":"2017","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.gene.2013.08.032","article-title":"A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus","volume":"530","author":"Sismani","year":"2013","journal-title":"Gene"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1002\/ajmg.a.32742","article-title":"Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax","volume":"149A","author":"Lugtenberg","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"7014","DOI":"10.1074\/jbc.M312205200","article-title":"DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes","volume":"279","author":"Albrecht","year":"2004","journal-title":"J. Biol. Chem."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/2\/809\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T10:31:38Z","timestamp":1759919498000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/2\/809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,19]]},"references-count":17,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["ijms26020809"],"URL":"https:\/\/doi.org\/10.3390\/ijms26020809","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2025,1,19]]}}}