Functional and Genomic Features of Human Genes Mutated in Neuropsychiatric Disorders

Diego A. Forero1, 4, *, Carlos F. Prada2, George Perry3
1 Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia
2 Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima. Ibagué, Colombia
3 College of Sciences, University of Texas at San Antonio, San Antonio, Texas, USA

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Creative Commons License
© Forero et al.; Licensee Bentham Open

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (, which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Laboratory of NeuroPsychiatric Genetics, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia; Tel:+ 57 313 2610427; E-mail:



In recent years, a large number of studies around the world have led to the identification of causal genes for hereditary types of common and rare neurological and psychiatric disorders.


To explore the functional and genomic features of known human genes mutated in neuropsychiatric disorders.


A systematic search was used to develop a comprehensive catalog of genes mutated in neuropsychiatric disorders (NPD). Functional enrichment and protein-protein interaction analyses were carried out. A false discovery rate approach was used for correction for multiple testing.


We found several functional categories that are enriched among NPD genes, such as gene ontologies, protein domains, tissue expression, signaling pathways and regulation by brain-expressed miRNAs and transcription factors. Sixty six of those NPD genes are known to be druggable. Several topographic parameters of protein-protein interaction networks and the degree of conservation between orthologous genes were identified as significant among NPD genes.


These results represent one of the first analyses of enrichment of functional categories of genes known to harbor mutations for NPD. These findings could be useful for a future creation of computational tools for prioritization of novel candidate genes for NPD.

Keywords: Biological psychiatry, Brain diseases, Computational biology, Genomics, Neurological disorders, Systems biology.