{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T06:13:10Z","timestamp":1785564790461,"version":"3.56.0"},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T00:00:00Z","timestamp":1593993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute for Health Research; British Medical Association; Baasch Medicus Foundation; National Institute for Health Research"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>YY1<\/jats:italic> mutations cause Gabriele\u2010de Vries syndrome, a recently described condition involving cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement disorders were reported in 5\/10 cases of the original series, but no detailed description was provided. Here we present a 21\u2010year\u2010old woman with a mild intellectual deficit, facial dysmorphism and a complex movement disorder including an action tremor, cerebellar ataxia, dystonia, and partial ocular apraxia as the presenting and most striking feature. Whole\u2010exome sequencing revealed a novel heterozygous de novo mutation in <jats:italic>YY1<\/jats:italic> [NM: 003403.4 (YY1): c.907\u2009T\u2009&gt;\u2009C; p.(Cys303Arg)], classified as pathogenic according to the ACMG guidelines.<\/jats:p>","DOI":"10.1002\/ajmg.a.61731","type":"journal-article","created":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T07:13:15Z","timestamp":1594019595000},"page":"2129-2132","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Complex movement disorder in a patient with heterozygous <scp>YY1<\/scp> mutation (Gabriele\u2010de Vries syndrome)"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5678-2505","authenticated-orcid":false,"given":"Maria Teresa","family":"Carminho\u2010Rodrigues","sequence":"first","affiliation":[{"name":"Department of Genetics University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Departement of Neurosciences UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio B.","family":"Sousa","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"Brandt","sequence":"additional","affiliation":[{"name":"Neurologische Klinik Klinik und Poliklinik des Universit\u00e4tsklinikums W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Guipponi","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Laurent","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurea","family":"Moren","sequence":"additional","affiliation":[{"name":"Department of Neurology Movement Disorders Unit, University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Zacharia","sequence":"additional","affiliation":[{"name":"Department of Neurology Movement Disorders Unit, University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Dirren","sequence":"additional","affiliation":[{"name":"Department of Neurology Movement Disorders Unit, University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)  Coimbra Portugal"},{"name":"Medical Genetics Unit Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[{"name":"Departement of Neurosciences UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre R.","family":"Burkhard","sequence":"additional","affiliation":[{"name":"Department of Neurology Movement Disorders Unit, University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien F.","family":"Bally","sequence":"additional","affiliation":[{"name":"Department of Neurology Movement Disorders Unit, University of Geneva &amp; University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1503696112"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.006"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.03.012"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05486.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2686"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01344"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40626"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.712"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2017.06.009"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61731","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61731","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61731","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61731","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T06:01:29Z","timestamp":1744956089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,6]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/ajmg.a.61731"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61731","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,6]]},"assertion":[{"value":"2020-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}