Cited by 771Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Genetics of austim: complex aetiology for a heterogeneous disorder

Folstein, Susan E., Rosen-Sheidley, Beth·2001·Nature Reviews Genetics

Abstract

Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.

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Crossref · 10.1038/35103559

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  • Cytogenetic rearrangements have been reported in about 6-7% of autism spectrum disorder cases.

    “Cytogenetic rearrangements were reported in ~6–7% of autism spectrum disorder (ASD) cases (Folstein and Rosen-Sheidley, 2001).”

    From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Folstein and Rosen-Sheidley, 2001

  • ASD has been noted as a comorbid feature of >100 single gene, Mendelian medical genetic syndromes, although the penetrance and confidence of the clinical associations are variable.

    “In addition, ASD has been noted as a comorbid feature of >100 single gene, Mendelian medical genetic syndromes, 79 although the penetrance and confidence of the clinical associations are variable.”

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Authors
Folstein, S. E., & Rosen-Sheidley, B.
Affiliations
Tufts University (US)
Venue
Nature Reviews Genetics
Published
2001-12-01
Volume
2
Issue
12
Pages
943-955
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
OpenAlex
W2005149292
Cited by
771
References
136
Citations by year
2026: 5 · 2025: 7 · 2024: 6 · 2023: 7 · 2022: 8 · 2021: 12 · 2020: 12 · 2019: 15 · 2018: 14 · 2017: 17 · 2016: 29 · 2015: 46 · 2014: 31 · 2013: 41 · 2012: 47
FWCI
2.75
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Reviews Genetics (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, genetic aetiology, twin studies, chromosomal abnormalities, genome-wide association study, candidate genes, genetic heterogeneity
MeSH terms
Autistic Disorder, Chromosome Mapping, Female, Genetic Counseling, Humans, Male, Phenotype, Genome, Human

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