Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits
Abstract
1. Introduction
2. Results
2.1. Clinical Data
2.2. Genetic Variant Detection
2.3. Protein Structure Prediction and Hydrogen Bonding Alterations
2.4. Structural Alignment and Stability Predictions
2.5. Predicted Structural Disorder
2.6. Allele Frequency and Evolutionary Conservation
3. Discussion
4. Materials and Methods
4.1. Library Preparation and Whole-Exome Sequencing (WES)
4.2. Variant Identification and Filtering
4.3. Inheritance Pattern and Allele Frequencies
4.4. Gene Expression and Functional Domain Analysis
4.5. Impact of Mutations on Protein Structure
4.6. Protein Structure Prediction and Modeling
4.7. Sequence Alignment and Phylogenetic Analysis
4.8. Brain Expression Profile Analysis
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
ACMG | American College of Medical Genetics |
CSMD1 | CUB and Sushi domain-containing protein 1 |
HGMD | Human Gene Mutation Database |
WES | Whole-exome sequencing |
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Musumeci, A.; Vinci, M.; Treccarichi, S.; Greco, D.; Rizzo, B.; Gloria, A.; Federico, C.; Saccone, S.; Musumeci, S.A.; Calì, F. Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits. Int. J. Mol. Sci. 2025, 26, 4297. https://doi.org/10.3390/ijms26094297
Musumeci A, Vinci M, Treccarichi S, Greco D, Rizzo B, Gloria A, Federico C, Saccone S, Musumeci SA, Calì F. Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits. International Journal of Molecular Sciences. 2025; 26(9):4297. https://doi.org/10.3390/ijms26094297
Chicago/Turabian StyleMusumeci, Antonino, Mirella Vinci, Simone Treccarichi, Donatella Greco, Biagio Rizzo, Angelo Gloria, Concetta Federico, Salvatore Saccone, Sebastiano Antonino Musumeci, and Francesco Calì. 2025. "Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits" International Journal of Molecular Sciences 26, no. 9: 4297. https://doi.org/10.3390/ijms26094297
APA StyleMusumeci, A., Vinci, M., Treccarichi, S., Greco, D., Rizzo, B., Gloria, A., Federico, C., Saccone, S., Musumeci, S. A., & Calì, F. (2025). Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits. International Journal of Molecular Sciences, 26(9), 4297. https://doi.org/10.3390/ijms26094297