{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:17:50Z","timestamp":1791371870800,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome\u2010wide analyses can reveal novel genotype\u2013phenotype associations and provide a diagnosis for patients and families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A family of 2 affected brothers and unaffected parents had extensive phenotyping since birth. Whole\u2010genome and long\u2010read sequencing methods characterized genetic variants and methylation status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two male siblings with a CGG repeat expansion in the 5\u2032\u2010untranslated region (UTR) of disco\u2010interacting protein 2 homolog B (<jats:italic>DIP2B<\/jats:italic>) presented with a novel <jats:italic>DIP2B<\/jats:italic> phenotype, including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (chorea, dystonia, and ataxia).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report of a severe progressive movement disorder phenotype associated with a CGG repeat expansion in the <jats:italic>DIP2B<\/jats:italic> 5\u2032\u2010UTR. \u00a9 2025 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30101","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T05:46:57Z","timestamp":1737697617000},"page":"567-578","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Disco\u2010Interacting Protein 2 Homolog B <scp>CGG<\/scp> Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7466-7209","authenticated-orcid":false,"given":"Emilie T.","family":"Th\u00e9berge","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia 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