title: Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
abstract: Tourette syndrome (TS) is a childhood onset neurodevelopmental disorder. Although it is widely accepted that genetic factors play a significant role in TS pathogenesis the etiology of this disorder is largely unknown. Identification of rare copy number variations (CNVs) as susceptibility factors in several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism and schizophrenia, suggests involvement of these rare structural changes also in TS etiology. In a male patient with TS, ADHD, and OCD (obsessive compulsive disorder) we identified two microduplications (at 15q13.3 and Xq21.31) inherited from a mother with subclinical ADHD. The 15q duplication included the CHRNA7 gene; while two genes, PABPC5 and PCDH11X, were within the Xq duplication. The Xq21.31 duplication was present in three brothers with TS including the proband, but not in an unaffected brother, whereas the 15q duplication was present only in the proband and his mother. The structural variations observed in this family may contribute to the observed symptoms, but further studies are necessary to investigate the possible involvement of the described variations in the TS etiology.
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
authors.forename: Linea
authors.initials: L
authors.lastname: Melchior
authors.forename: Birgitte
authors.initials: B
authors.lastname: Bertelsen
authors.forename: Nanette Mol
authors.initials: NM
authors.lastname: Debes
authors.forename: Camilla
authors.initials: C
authors.lastname: Groth
authors.forename: Liselotte
authors.initials: L
authors.lastname: Skov
authors.forename: Jens D
authors.initials: JD
authors.lastname: Mikkelsen
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D015897:Comorbidity; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D005879:Tourette Syndrome / Q000453:epidemiology* / Q000235:genetics*
keywords: ADHD; CHRFAM7A; CHRNA7; PABPC5; PCDH11X; Tourette syndrome