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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
1Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
International Journal of Molecular Sciences
|June 19, 2024
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.
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.
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