Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
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Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11–q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling. Methods and results: 29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Eight clinically relevant rearrangements were identified in 8 (27.5%) patients: six deletions and two duplications. Altered segments ranged in size from 1.4 to 16 Mb (2–19 clones). No recurrent abnormality was identified. Conclusion: These results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD. Moreover, besides their importance for diagnosis and genetic counselling, they may allow the delineation of new contiguous gene syndromes associated with ASD. Finally, the detailed molecular analysis of the rearranged regions may pave the way for the identification of new ASD genes.
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There are more than 60 monogenic syndromes with high penetrance for autism.
“To date, there are more than 60 monogenic syndromes with high penetrance for autism, as well as other forms of syndromic autism that are the result of larger chromosomal abnormalities [6,9,10].”
From The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders (2020) · cites this paper as [10]
The finding that unbalanced chromosome abnormalities are found predominantly in children with autism who are dysmorphic (142, 143, 145), strengthens this hypothesis.
“the finding that unbalanced chromosome abnormalities are found predominantly in children with autism who are dysmorphic (142, 143, 145), strengthens this hypothesis.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [145]
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Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1120210109 · Cited by 139 · see citing works
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33253 · Cited by 138 · see citing works
The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders
Casanova, E. L., Baeza-Velasco, C., Buchanan, C. B., & Casanova, M. F. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10040260 · Cited by 109 · see citing works
Autism: highly heritable but not inherited
Beaudet, A. L. (2007) · Nature Medicine · doi:10.1038/nm0507-534 · Cited by 100 · see citing works
Association and mutation analyses of 16p11.2 autism candidate genes
Kumar, R. A., Marshall, C. R., Badner, J. A., Babatz, T. D., Mukamel, Z., Aldinger, K. A., Sudi, J., Brune, C. W., Goh, G., KaraMohamed, S., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004582 · Cited by 95 · see citing works
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Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders
Merikangas, A. K., & Almasy, L. (2020) · Genes, Brain and Behavior · doi:10.1111/gbb.12660 · Cited by 82 · see citing works
Schizophrenia: Genome, Interrupted
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- Authors
- Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., Prieur, M., Vekemans, M., Carter, N. P., Munnich, A., Colleaux, L., & Philippe, A.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- Wellcome Sanger Institute (GB)
- Corresponding author
- Philippe, A
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2006-07-13
- Volume
- 43
- Issue
- 11
- Pages
- 843-849
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC2563185
- OpenAlex
- W2148468839
- Cited by
- 305
- References
- 51
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 6 · 2023: 7 · 2022: 3 · 2021: 10 · 2020: 13 · 2019: 7 · 2018: 6 · 2017: 12 · 2016: 14 · 2015: 13 · 2014: 23 · 2013: 17 · 2012: 21
- FWCI
- 19.16
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Wellcome Trust (077008)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, syndromic autism, cryptic chromosomal rearrangements, chromosomal microdeletion, chromosomal duplication, contiguous gene syndrome, genetic counseling, array comparative genomic hybridization, 22q13.3 deletion
- MeSH terms
- Adolescent, Adult, Child, Child Development Disorders, Pervasive, Chromosome Aberrations, Chromosomes, Human, Female, Genetic Testing, Humans, Male, Syndrome, Oligonucleotide Array Sequence Analysis, Genomics
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