Rare inherited variation in autism: Beginning to see the forest and a few trees
Open accessAbstract
In this issue of Neuron, two papers (Lim et al., 2013; Yu et al., 2013) use whole-exome sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by leveraging the increased penetrance of homozygous and compound heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males. Together, they expand our knowledge about the genetic architecture of ASD, verify previously identified genes, and identify novel mutations that will guide the discovery of the critical biological processes disrupted in autism.
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A substantial minority on the autism spectrum display rare genetic variants that appear to be the primary cause of their conditions.
“Meanwhile, a substantial minority on the autism spectrum display rare genetic variants that appear to be the primary cause of their conditions [5].”
From The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders (2020) · cites this paper as [5]
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The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders
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- Authors
- Stein, J. L., Parikshak, N. N., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Geschwind, Daniel H.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2013-01
- Volume
- 77
- Issue
- 2
- Pages
- 209-211
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3691080
- OpenAlex
- W2070888127
- Cited by
- 68
- References
- 15
- Citations by year
- 2026: 1 · 2024: 3 · 2023: 1 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 11 · 2015: 12 · 2014: 7 · 2013: 10
- FWCI
- 7.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 387 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (F30MH099886, R01MH081754)
- National Institute of General Medical Sciences (T32GM008042)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055784)
- 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 › Genomics and Rare Diseases
- Keywords
- autism spectrum disorder, rare variants, homozygous variant, compound heterozygosity, genetic architecture
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