Prioritization of neurodevelopmental disease genes by discovery of new mutations
Open accessAbstract
Advances in genome sequencing technologies have begun to revolutionize neurogenetics, allowing the full spectrum of genetic variation to be better understood in relation to disease. Exome sequencing of hundreds to thousands of samples from patients with autism spectrum disorder, intellectual disability, epilepsy and schizophrenia provides strong evidence of the importance of de novo and gene-disruptive events. There are now several hundred new candidate genes and targeted resequencing technologies that allow screening of dozens of genes in tens of thousands of individuals with high specificity and sensitivity. The decision of which genes to pursue depends on many factors, including recurrence, previous evidence of overlap with pathogenic copy number variants, the position of the mutation in the protein, the mutational burden among healthy individuals and membership of the candidate gene in disease-implicated protein networks. We discuss these emerging criteria for gene prioritization and the potential impact on the field of neuroscience.
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Several rare, highly penetrant mutations in evolutionarily constrained fetal brain-expressed genes are associated with ASD, schizophrenia, intellectual disability, and epilepsy.
“Several rare, highly penetrant mutations in evolutionarily constrained fetal brain-expressed genes are associated with ASD, schizophrenia and intellectual disability, as well as epilepsy83,85–87.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [86]
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- Authors
- Hoischen, A., Krumm, N., & Eichler, E. E.
- Affiliations
- Radboud University Nijmegen (NL)
- University of Washington (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Hoischen, Alexander
- Eichler, Evan E
- Venue
- Nature Neuroscience
- Published
- 2014-05-27
- Volume
- 17
- Issue
- 6
- Pages
- 764-772
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4077789
- OpenAlex
- W2011747578
- Cited by
- 149
- References
- 94
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 6 · 2022: 6 · 2021: 10 · 2020: 14 · 2019: 16 · 2018: 19 · 2017: 18 · 2016: 20 · 2015: 21 · 2014: 8
- FWCI
- 2.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- ZonMw
- National Institutes of Health
- National Institute of Mental Health (R01MH101221)
- National Institute of General Medical Sciences (T32GM007266)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- neurodevelopmental disorders, gene prioritization, de novo mutations, pathogenic variants, autism spectrum disorder, intellectual disability, epilepsy, schizophrenia, copy number variation, targeted sequencing, candidate genes, protein networks, mutational burden, exome sequencing
- MeSH terms
- Humans, Mutation, Nervous System Diseases, Genetic Predisposition to Disease, Genetic Association Studies, Exome
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