ArticleNeurogenetics2014
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- The role of DPP6 dysregulation in neuropathology: from synaptic regulation to disease mechanisms.Frontiers in cellular neuroscience · 2025Review
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Alzheimer's disease/dementia-associated brain pathology in aging DPP6-KO mice.Neurobiology of disease · 2022Article
- Neuronal Roles of the Multifunctional Protein Dipeptidyl Peptidase-like 6 (DPP6).International journal of molecular sciences · 2022Review
- The Molecular Genetics of Dissociative Symptomatology: A Transdiagnostic Literature Review.Genes · 2022Review
- Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.International journal of molecular sciences · 2021Article
- A novel structure associated with aging is augmented in the DPP6-KO mouse brain.Acta neuropathologica communications · 2020Article
- Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.Acta neuropathologica · 2019Article
- Article
- A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.PLoS pathogens · 2018Article
- Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Frontiers in psychiatry · 2016Review
- Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.Molecular cytogenetics · 2016Article
- From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.Frontiers in neuroscience · 2016Review
- Tourette Syndrome: Bridging the Gap between Genetics and Biology.Molecular neuropsychiatry · 2015Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS still remains elusive. Herein, we investigated an Italian family where an 8-year-old boy, his father, and paternal uncle have a diagnosis of TS. Array-CGH and high resolution SNP-array analyses revealed a heterozygous microdeletion of ∼135 kb at the 7q36.2 locus in the proband and his father. Fluorescent in situ hybridization and quantitative PCR (qPCR) analyses confirmed the presence of the alteration also in the paternal uncle. The deletion selectively involves the first exon of the DPP6 gene, leading to a down-regulation of its expression, as demonstrated by the reduced messenger RNA (mRNA) levels assessed by RT-qPCR. The DPP6 gene encodes for a type II membrane glycoprotein expressed predominantly in the central nervous system. To date, a de novo DPP6 exonic duplication, of uncertain significance, was reported in one patient with TS. Moreover, the DPP6 gene has been implicated in the pathogenesis of autism spectrum disorder (ASD) and, notably, in haloperidol-induced dyskinesia. This first familial case provides evidence for association between DPP6 haploinsufficiency and TS, further suggesting a plausible molecular link between TS and ASD, and might shed some light on the efficacy and tolerability profiles of antidopaminergic agents used for tic management, thus prompting further studies on a larger cohort of patients.
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