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Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.

Jakub P Fichna1, Mateusz Chiliński2,3,4, Anup Kumar Halder2,3

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|June 19, 2024
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Summary

Genetic factors contribute to Gilles de la Tourette syndrome (GTS). This study identified structural variants in genes like USH2A, potentially impacting neurotransmission and neuronal development in familial GTS.

Keywords:
CNVcopy numberduplicationinversionmisophonianeurexinpolygenicschizophreniatic disordersvariant burden

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Area of Science:

  • Neurogenetics
  • Psychiatric Disorders
  • Genomics

Background:

  • Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder with a strong genetic component.
  • Identifying specific genetic variants is crucial for understanding GTS etiology.

Purpose of the Study:

  • To identify structural variants associated with familial GTS.
  • To explore the role of these variants in disease pathogenesis.

Main Methods:

  • Whole-genome sequencing in 17 multiplex families (80 patients).
  • Co-segregation analysis and bioinformatics to identify and validate variants.
  • Gene ontology and pathway enrichment analysis.

Main Results:

  • Seventy putative pathogenic structural variants were identified.
  • Rare exonic deletions in LDLRAD4, B2M, USH2A, and ZNF765.
  • Variants in USH2A, GOLM1, and DISC1 showed co-segregation with GTS in families.
  • Enrichment analysis implicated synaptic vesicle endocytosis, cell organization, and neurite outgrowth signaling.

Conclusions:

  • Structural variants in genes including USH2A may contribute to familial GTS.
  • Findings suggest involvement of neurotransmission regulation, neuronal migration, and sound-sensing pathways in GTS.