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Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G<jats:sub>1<\/jats:sub>-S checkpoint pathway (<jats:italic>THAP1<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>CIZ1<\/jats:italic> and <jats:italic>TAF1<\/jats:italic>). Secondary dystonia is also a relatively common clinical sign in many neurogenetic disorders. However, the contribution of structural variation in the genome to the etiopathogenesis of dystonia remains largely unexplored.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>Cytogenetic analyses with the Affymetrix Genome-Wide Human SNP Array 6.0 identified a chromosome 13q34 duplication in a 36\u00a0year-old female with global developmental delay, facial dysmorphism, tall stature, breast cancer and dystonia, and her neurologically-normal father. Dystonia improved with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). Genomic breakpoint analysis, quantitative PCR (qPCR) and leukocyte gene expression were used to characterize the structural variant. The 218,345\u00a0bp duplication was found to include <jats:italic>ADPRHL1<\/jats:italic>, <jats:italic>DCUN1D2<\/jats:italic>, and <jats:italic>TMCO3<\/jats:italic>, and a 69\u00a0bp fragment from a long terminal repeat (LTR) located within Intron 3 of <jats:italic>TFDP1<\/jats:italic>. The 3<jats:italic>'<\/jats:italic> breakpoint was located within Exon 1 of a <jats:italic>TFDP1<\/jats:italic> long non-coding RNA (NR_026580.1). In the affected subject and her father, gene expression was higher for all three genes located within the duplication. However, in comparison to her father, mother and neurologically-normal controls, the affected subject also showed marked overexpression (2\u00d7) of the transcription factor <jats:italic>TFDP1<\/jats:italic> (NM_007111.4). Whole-exome sequencing identified an <jats:italic>SGCE<\/jats:italic> variant (c.1295G\u2009&gt;\u2009A, p.Ser432His) that could possibly have contributed to the development of dystonia in the proband. No pathogenic mutations were identified in <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Overexpression of <jats:italic>TFDP1<\/jats:italic> has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-14-70","type":"journal-article","created":{"date-parts":[[2013,7,13]],"date-time":"2013-07-13T08:13:56Z","timestamp":1373703236000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report"],"prefix":"10.1186","volume":"14","author":[{"given":"Mariana","family":"Moscovich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark S","family":"LeDoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianfeng","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garrett L","family":"Rampon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satya R","family":"Vemula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon L","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly D","family":"Foote","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S","family":"Okun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,7,13]]},"reference":[{"issue":"1","key":"1101_CR1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/path.2732","volume":"222","author":"SD Castillo","year":"2010","unstructured":"Castillo SD, Angulo B, Suarez-Gauthier A, Melchor L, Medina PP, Sanchez-Verde L, Torres-Lanzas J, Pita G, Benitez J, Sanchez-Cespedes M: Gene amplification of the transcription factor DP1 and CTNND1 in human lung cancer. 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