Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

• Published in: Biological Psychiatry
• Main Authors: Bertelsen, Birgitte, Stefánsson, Hreinn, Riff Jensen, Lars, Melchior, Linea, Mol Debes, Nanette, Groth, Camilla, Skov, Liselotte, Werge, Thomas, Karagiannidis, Iordanis, Tarnok, Zsanett, Barta, Csaba, Nagy, Peter, Farkas, Luca, Brøndum Nielsen, Karen, Rizzo, Renata, Gulisano, Mariangela, Rujescu, Dan, Kiemeney, Lambertus A, Nawaz, Muhammad Sulaman, Ingason, Andres, Unnsteinsdottir, Unnur, Steinberg, Stacy, Ludvigsson, Pétur, Stefansson, Kari, Kuss, Andreas Walter, Paschou, Peristera, Cath, Danielle, Hoekstra, Pieter J, Müller Vahl, Kirsten, Stuhrmann, Manfred, Silahtaroglu, Asli, Pfundt, Rolph, Tümer, Zeynep, TOSATO, Sarah
• Other Authors: Riff Jensen, Lar, Werge, Thoma, Karagiannidis, Iordani, Tosato, Sarah, Ingason, Andre
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2016
• Subjects: AADAC; Association study; CNV; Copy number variation; Gilles de la Tourette syndrome; Neuropsychiatric disorder; Adult; Animal; Attention Deficit Disorder with Hyperactivity; Cohort Studie; Comorbidity; DNA Copy Number Variation; Denmark; Exon; Female; Genotyping Technique; Germany; Human; Hungary; Iceland; Italy; Male; Mice; Netherland; Sequence Deletion; Tourette Syndrome
• Online Access: http://hdl.handle.net/11562/950317; https://doi.org/10.1016/j.biopsych.2015.08.027; http://www.biologicalpsychiatryjournal.com/article/S0006-3223(15)00726-X/abstract

Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encoding arylacetamide deacetylase (AADAC), were observed and merited further investigations.