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The aim of this study was to identify structural variants that could be associated with familial GTS. The study group comprised 17 multiplex families with 80 patients. Structural variants were identified from whole-genome sequencing data and followed by co-segregation and bioinformatic analyses. The localization of these variants was used to select candidate genes and create gene sets, which were subsequently processed in gene ontology and pathway enrichment analysis. Seventy putative pathogenic variants shared among affected individuals within one family but not present in the control group were identified. Only four private or rare deletions were exonic in LDLRAD4, B2M, USH2A, and ZNF765 genes. Notably, the USH2A gene is involved in cochlear development and sensory perception of sound, a process that was associated previously with familial GTS. In addition, two rare variants and three not present in the control group were co-segregating with the disease in two families, and uncommon insertions in GOLM1 and DISC1 were co-segregating in three families each. Enrichment analysis showed that identified structural variants affected synaptic vesicle endocytosis, cell leading-edge organization, and signaling for neurite outgrowth. The results further support the involvement of the regulation of neurotransmission, neuronal migration, and sound-sensing in GTS.<\/jats:p>","DOI":"10.3390\/ijms25115758","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T10:12:27Z","timestamp":1716804747000},"page":"5758","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4077-4807","authenticated-orcid":false,"given":"Jakub P.","family":"Fichna","sequence":"first","affiliation":[{"name":"Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6641-8504","authenticated-orcid":false,"given":"Mateusz","family":"Chili\u0144ski","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland"},{"name":"Laboratory of Functional and Structural Genomics, Centre of New Technologies, University of Warsaw, 02-097 Warsaw, Poland"},{"name":"Section for Computational and RNA Biology, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4825-1901","authenticated-orcid":false,"given":"Anup Kumar","family":"Halder","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland"},{"name":"Laboratory of Functional and Structural Genomics, Centre of New Technologies, University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7735-7580","authenticated-orcid":false,"given":"Pawe\u0142","family":"Ci\u0119szczyk","sequence":"additional","affiliation":[{"name":"Faculty of Physical Education, Gdansk University of Physical Education and Sport, G\u00f3rskiego 1 Street, 80-336 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3840-7610","authenticated-orcid":false,"given":"Dariusz","family":"Plewczynski","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland"},{"name":"Laboratory of Functional and Structural Genomics, Centre of New Technologies, University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7332-8494","authenticated-orcid":false,"given":"Cezary","family":"\u017bekanowski","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland"},{"name":"Faculty of Physical Education, Gdansk University of Physical Education and Sport, G\u00f3rskiego 1 Street, 80-336 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2701-191X","authenticated-orcid":false,"given":"Piotr","family":"Janik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"16097","DOI":"10.1038\/nrdp.2016.97","article-title":"Gilles de La Tourette Syndrome","volume":"3","author":"Robertson","year":"2017","journal-title":"Nat. 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