Genotype to phenotype relationships in autism spectrum disorders
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Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both truncating and nontruncating de novo mutations contribute to autism, with a bias against truncating mutations in early embryonic development. We find that functional mutations are preferentially observed in genes likely to be haploinsufficient. Multiple cell types and brain areas are affected, but the impact of ASD mutations appears to be strongest in cortical interneurons, pyramidal neurons and the medium spiny neurons of the striatum, implicating cortical and corticostriatal brain circuits. In females, truncating ASD mutations on average affect genes with 50–100% higher brain expression than in males. Our results also suggest that truncating de novo mutations play a smaller role in the etiology of high-functioning ASD cases. Overall, we find that stronger functional insults usually lead to more severe intellectual, social and behavioral ASD phenotypes.
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ASD genes are expressed at high levels in the human cortex and early in development.
“Thus, in keeping with prior analyses (Chang et al., 2015; Parikshak et al., 2013; Willsey et al., 2013; Xuet al., 2014), ASD genes are expressed at high levels in the human cortex and early in development.”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as Chang et al., 2015
Prior analyses have implicated excitatory glutamatergic neurons in the cortex and medium spiny neurons in the striatum in ASD.
“Prior analyses have implicated excitatory glutamatergic neurons in the cortex and medium spiny neurons in the striatum in ASD (Chang et al., 2015; Parikshak et al., 2013; Willsey et al., 2013; Xu et al., 2014).”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as Chang et al., 2015
NETBAG+ applied to large sets of SNVs and CNVs in schizophrenia and ASD confirmed convergence of disease genes onto shared pathways.
“An extension of the NETBAG approach (dubbed NETBAG+) has also been applied to simultaneously evaluate large sets of single-nucleotide variants (SNVs) and CNVs in schizophrenia131 and ASD132, confirming the convergence of disease genes onto shared pathways.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [132]
Efforts have been made to look at genotype-phenotype relations in ASD.
“efforts have been made to look at genotype-phenotype relations in ASD (Bruining et al., 2014; Chang et al., 2015; Schauder et al., 2015b; Veatch et al., 2014)”
From Behavioral, Perceptual, and Neural Alterations in Sensory and Multisensory Function in Autism Spectrum Disorder (2015) · cites this paper as Chang et al., 2015
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“Thus, supporting their role in ASD risk and in 22 keeping with prior analyses (19, 84-86), the ASD genes show higher expression in human 23 neocortex and are expressed early in brain development.”
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Merging Data from Genetic and Epigenetic Approaches to Better Understand Autistic Spectrum Disorder
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- Authors
- Chang, J., Gilman, S. R., Chiang, A. H., Sanders, S. J., & Vitkup, D.
- Affiliations
- Columbia University (US)
- University of California, San Francisco (US)
- Corresponding author
- Vitkup, Dennis
- Venue
- Nature Neuroscience
- Published
- 2014-12-22
- Volume
- 18
- Issue
- 2
- Pages
- 191-198
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4397214
- OpenAlex
- W2034102853
- Semantic Scholar
- cd9ec1bd7ee19941bdb50a9484babadadbeeb32d
- Cited by
- 197
- References
- 52
- Citations by year
- 2026: 7 · 2025: 13 · 2024: 9 · 2023: 13 · 2022: 9 · 2021: 18 · 2020: 25 · 2019: 16 · 2018: 22 · 2017: 19 · 2016: 24 · 2015: 22
- FWCI
- 11.99
- 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)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Cancer Institute (U54CA121852)
- National Institute of General Medical Sciences (T32GM082797)
- U.S. National Library of Medicine (T15LM007079)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genotype-phenotype correlation, de novo mutations, truncating mutations, haploinsufficiency, cortical interneurons, pyramidal neurons, medium spiny neurons, corticostriatal circuits, sex differences, brain gene expression, severity of intellectual disability, high-functioning autism
- MeSH terms
- Brain, Child Development Disorders, Pervasive, Female, Genotype, Humans, Male, Mutation, Phenotype, Genetic Association Studies
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