Autism spectrum disorders-a genetics review
Open accessAbstract
Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists are confident that autism will be the first behavioral disorder for which the genetic basis can be well established. Although it was initially assumed that major genome-wide and candidate gene association studies would lead most directly to common autism genes, progress has been slow. Rather, most discoveries have come from studies of known genetic disorders associated with the behavioral phenotype. New technology, especially array chromosomal genomic hybridization, has both increased the identification of putative autism genes and raised to approximately 25%, the percentage of children for whom an autism-related genetic change can be identified. Incorporating clinical geneticists into the diagnostic and autism research arenas is vital to the field. Interpreting this new technology and deciphering autism's genetic montage require the skill set of the clinical geneticist including knowing how to acquire and interpret family pedigrees, how to analyze complex morphologic, neurologic, and medical phenotypes, sorting out heterogeneity, developing rational genetic models, and designing studies. The current emphasis on deciphering autism spectrum disorders has accelerated the field of neuroscience and demonstrated the necessity of multidisciplinary research that must include clinical geneticists both in the clinics and in the design and implementation of basic, clinical, and translational research.
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Cytogenetic abnormalities have been reported for almost every chromosome.
“Similarly, cytogenetic abnormalities have been reported for almost every chromosome [for a review, see Ref. (3–7) and http://projects.tcag.ca/autism/].”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [7]
A rare consistent association with AD is in utero exposure to two known teratogenic medications, thalidomide and valproate, or the abortifactant misoprostol.
“In addition, concerning the prenatal risk factors for AD, a rare consistent association with AD is in utero exposure to two known teratogenic medications, thalidomide, and valproate (valproate is a broad-spectrum anticonvulsant drug used in seizures, bipolar disorder, or migraine headache), or the abortifactant misoprostol (7, 61–63).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [7]
Genetic mutations identified in small numbers of people with autism have been generated in mice.
“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [21]
Inbred strains with robust behavioral phenotypes relevant to autism but without identified genetic mutations are analogous to individuals with autism for whom the responsible genetic factors remain unknown; more than 75% of autism cases have unknown genetic factors.
“Inbred strains with robust behavioral phenotypes relevant to the defining symptoms of autism, but without identified genetic mutations, are analogous to individuals with autism for whom the responsible genetic factor(s) remains unknown; at present, this is more than 75% of the cases of autism (21).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [21]
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“It is widely accepted that both genetic and non-genetic factors are associated with the development of ASD (Bailey et al. 1995; Hallmayer et al. 2011; Miles 2011), although distinct genetic mechanisms have been found for only 10–25 % of all children with an ASD (Abrahams and Geschwind 2008; Geschwind 2011; Miles 2011)…”
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- Authors
- Miles, J. H.
- Affiliations
- University of Missouri Hospital (US)
- Corresponding author
- Miles, Judith H.
- ORCID
- Miles, Judith H.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2011-04
- Volume
- 13
- Issue
- 4
- Pages
- 278-294
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2061706174
- Cited by
- 567
- References
- 225
- Citations by year
- 2026: 11 · 2025: 22 · 2024: 22 · 2023: 34 · 2022: 34 · 2021: 31 · 2020: 50 · 2019: 31 · 2018: 29 · 2017: 44 · 2016: 66 · 2015: 51 · 2014: 40 · 2013: 38 · 2012: 48
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- 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, autism genetics, heritability, genetic heterogeneity, chromosomal microarray analysis, candidate gene association, genome-wide association study, medical genetics, pedigree analysis, genetic models
- MeSH terms
- Child, Child Development Disorders, Pervasive, Fragile X Syndrome, Humans, Phenotype, Genome, Human, Databases, Genetic
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