Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
Abstract
Pedigree, linkage and association studies are consistent with heritable variation for complex disease due to the segregation of genetic factors in families and in the population. In contrast, de novo mutations make only minor contributions to heritability estimates for complex traits. Nonetheless, some de novo variants are known to be important in disease etiology. The identification of risk-conferring de novo variants will contribute to the discovery of etiologically relevant genes and pathways and may help in genetic counseling. There is considerable interest in the role of such mutations in complex neuropsychiatric disease, largely driven by new genotyping and sequencing technologies. An important role for large de novo copy number variations has been established. Recently, whole-exome sequencing has been used to extend the investigation of de novo variation to point mutations in protein-coding regions. Here, we consider several challenges for the interpretation of such mutations in the context of their role in neuropsychiatric disease.
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Autism spectrum disorder has a substantial genetic component.
“Autism spectrum disorder (ASD) involves substantial genetic contributions.”
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The genetic contributions to ASD are highly heterogeneous but may converge on common pathways that are not yet well understood.
“These contributions are profoundly heterogeneous but may converge on common pathways that are not yet well understood1–3.”
From Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism (2016) · cites this paper as [2]
Quad-based designs are more informative for observed mutation rates than trio-based or case-control designs, which are susceptible to stratification effects.
“By contrast, trio-based and case-control study designs are less informative with respect to observed mutation rates and are susceptible to stratification effects [41].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [41]
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- Authors
- Gratten, J., Visscher, P. M., Mowry, B. J., & Wray, N. R.
- Affiliations
- The University of Queensland (AU)
- Corresponding author
- Gratten, Jacob
- Venue
- Nature Genetics
- Published
- 2013-03
- Volume
- 45
- Issue
- 3
- Pages
- 234-238
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2009265221
- Cited by
- 77
- References
- 65
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 4 · 2019: 3 · 2018: 3 · 2017: 3 · 2016: 12 · 2015: 13 · 2014: 22 · 2013: 5
- FWCI
- 11.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Australian Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- de novo mutations, neuropsychiatric disorders, causality, burden of proof, copy number variation, heritability, complex traits, genetic counseling, mutation database, point mutations
- MeSH terms
- Autistic Disorder, Exons, Humans, Genetic Linkage, Mutation, Pedigree, Schizophrenia, Open Reading Frames, Genetic Predisposition to Disease, Genetic Association Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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