ArticleMolecular psychiatry2018
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.
Article in Molecular psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Tourette syndrome research highlights from 2017.F1000Research · 2018Pooled it
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study.Frontiers in psychiatry · 2026Article
- Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.Journal of applied genetics · 2025Article
- Transcriptomic profiles of susceptibility and resilience to stress in the amygdala and hippocampus of male rats.Neurobiology of stress · 2025Article
- Sertraline treatment for paroxysmal nonkinesigenic dyskinesia comorbid with anxiety and depression.eNeurologicalSci · 2024Article
- Advances in Clustering and Classification of Tic Disorders: A Systematic Review.Neuropsychiatric disease and treatment · 2024Review
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Review
- Micro-RNAs from Plasma-Derived Small Extracellular Vesicles as Potential Biomarkers for Tic Disorders Diagnosis.Brain sciences · 2022Article
- Article
- Preliminary study on pathogenic mechanism of first Chinese family with PNKD.Translational neuroscience · 2022Article
- Correlation between Serum Levels of Vitamin A and Vitamin D with Disease Severity in Tic Disorder Children.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Advancements in Genomic and Behavioral Neuroscience Analysis for the Study of Normal and Pathological Brain Function.Frontiers in molecular neuroscience · 2022Review
- Trends of Tourette Syndrome in children from 2011 to 2021: A bibliometric analysis.Frontiers in behavioral neuroscience · 2022Article
- Genetic architecture of Tourette syndrome: our current understanding.Psychological medicine · 2021Review
- Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Genes · 2021Review
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments.International journal of medical sciences · 2021Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Tourette Disorder (TD) is a childhood-onset neuropsychiatric and neurodevelopmental disorder characterized by the presence of both motor and vocal tics. The genetic architecture of TD is believed to be complex and heterogeneous. Nevertheless, DNA sequence variants co-segregating with TD phenotypes within multiplex families have been identified. This report examines whole exomes of affected and unaffected individuals in a multiplex TD family to discover genes involved in the TD etiology. We performed whole exome sequencing on six out of nine members in a three-generation TD multiplex family. Putative deleterious sequence variants co-segregating with TD patients were identified by our in-house bioinformatics pipeline. Induced pluripotent stem cells (iPSCs) were generated from one unaffected and two TD affected individuals. Neurons were derived from the iPSCs and biochemical assays were conducted to evaluate possible molecular differences between affected and unaffected. A rare heterozygous nonsense mutation in PNKD was co-segregated with TD in this multiplex family. Transcript and protein levels of the PNKD long isoform were reduced in neurons derived from the individuals with TD due to the nonsense mutation, indicating nonsense-mediated mRNA decay. We demonstrated that the PNKD long isoform monomer oligomerizes with itself as well as interacts with the synaptic active zone protein RIMS1α. We concluded that reduced PNKD long isoform levels are detected in all affected individuals and we provide evidence for a mechanism whereby this might contribute to the TD phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.