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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
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“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 [4]
In the citing paper
“A subset of the genetic region associated with PWS is also associated with an increased risk for ASD, as maternally inherited duplications of the 15q11–13 region are associated with 1–3% of ASD cases (Bolton et al., 2001; Cook et al., 1997; Vorstman et al., 2006).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Vorstman et al., 2006
In the citing paper
“Karyotyping studies suggested that on the order of 5% of ASD cases have one of a large number of rare but relatively gross chromosomal abnormalities. 14,78”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [14]
In the citing paper
“microduplications or microdeletions of the region 15qllql3, which is subject to parental imprinting, have been repeatedly reported in subjects with autism”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [71]
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GABRB3, epilepsy, and neurodevelopment
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“In this regard, cytogenetic abnormalities highlight the putative involvement of the loci from Xq12 to Xq21 and Xp22 in autism pathogenesis [10,11], as well as associations with structural variants that have been reported for some X-chromosomal genes, such as NLGN4X and MECP2 genes [12–15].”
BackgroundAttia, S. M., Al‐Hamamah, M. A., Ahmad, S. F., Nadeem, A., Attia, M. S. M., Ansari, M. A., Bakheet, S. A., & AL-Ayadhi, L. Y. (2019) · DNA repair · doi:10.1016/j.dnarep.2019.102750 · Cited by 23
Psychopathological disorders in Prader–Willi syndrome
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The Genetics of Autism Spectrum Disorders
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“Duplication of this chromosomal region is the recurrent cytogenetic aberration associated with autism, which occurs in up to 5% of patients 9–11 , 27– 33 .”
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“2 linked to autism spectrum disorder (ASD), and animal models of certain ASDs exhibit altered ERK/MAPK activity (Vorstman et al. 2006; Kumar et al. 2008; Osterweil et al. 2010; Pucilowska et al. 2018).”
BackgroundAllelic variants in HTR3C show association with autism
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“The role of rare chromosomal rearrangements has been well-documented in the etiology of ASDs [Vorstman et al., 2006].”
BackgroundAutism, seasonality and the environmental perturbation of epigenome related vitamin levels
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“Chromosomal anomalies are found in 1%-2% of autistic individuals studied.(41) When considering genetic disposition, a biological sibling of a child with an ASD has a 6% to 15% chance of developing the same condition, compared to approximately 0.”
BackgroundDevillard, F., Guinchat, V., Moreno‐De‐Luca, D., Tabet, A., Gruchy, N., Guillem, P., Nguyen-Morel, M.-A., Leporrier, N., Leboyer, M., Jouk, P., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33601 · Cited by 18
“A great variety of structural chromosomal abnormalities have been reported for all chromosomes [Castermans et al., 2004; Veenstra-Vanderweele et al., 2004; Vorstman et al., 2006].”
BackgroundThe use of stem cells to study autism spectrum disorder.
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BackgroundLack of association between autism and four heavy metal regulatory genes
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“Genome-wide linkage screens have identified multiple genetic loci proposed to impact susceptibility and the overall autistic phenotype, but few surpass the significant linkage threshold value and fail to be consistently replicated (Vorstman et al. , 2006).”
BackgroundGenetik autistischer Störungen
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“In addition, cytogenetic abnormalities have been found, comprising effects on virtually all chromosomes, in 5% of children with ASD in studies using high-resolution karyotype analysis or fluorescence in situ hybridization (FISH) (Reddy, 2005; Vorstman et al., 2006; Lintas and Persico, 2009; Miles, 2011).”
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DNA Methylation in Autism Spectrum Disorders: Biomarker or Pharmacological Target?
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“…to their Repeated reports have shown that individuals with autism have mi-croduplications or microdeletions of the parentally none-printable region 15qllql3 [15,16]. potential mechanistic role in etiology, specifically to explain the effects of Several studies have indicated an association…”
BackgroundDavies, W. (2011) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2011.06.018 · Cited by 16
Genetic Causes of Autism Spectrum Disorders
Huguet, G., & Bourgeron, T. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00002-9 · Cited by 17
Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment
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A humanoid mouse model of autism
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“It is known that paternal or maternal deletion in 15q11-13 becomes Prader–Willi syndrome or Angelmann syndrome, respectively [1] and its duplications are the only commonly recurrent cytogenetic aberration associated with autism and occur in up to 5% of patients with autism [2–9].”
BackgroundRuiz‐Opazo, N., & Tonkiss, J. (2006) · Physiological Genomics · doi:10.1152/physiolgenomics.00019.2006 · Cited by 14
“Given the prominent social dysfunction associated with abnormal social cognition, observed in such disorders as autism (34) and schizophrenia, the elucidation of genes that affect social recognition could provide novel insights into genetic mechanisms underlying these conditions (12).”
BackgroundDiagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
Siu, W., Lam, C., Mak, C. M., Lau, E. T., Tang, M. H. Y., Tang, W., Poon‐Mak, R. S., Lee, C., Hung, S., Leung, P. W. L., et al. (2016) · Clinical and Translational Medicine · doi:10.1186/s40169-016-0098-1 · Cited by 13
“Evidently, a number of chromosomal abnormalities have been recognised to be associated with ASD phenotype [3].”
BackgroundAltered microbiota composition reflects enhanced communication in 15q11-13 CNV mice
Septyaningtrias, D. E., Lin, C.-W., Ouchida, R., Nakai, N., Suda, W., Hattori, M., Morita, H., Honda, K., Tamada, K., & Takumi, T. (2019) · Neuroscience Research · doi:10.1016/j.neures.2019.12.010 · Cited by 15
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder
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“As the most common comorbidity of ADHD, ASD has some similar pathogenesis with ADHD, especially in the gene pathways etiology.”
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“A wide range of numerical and structural chromosome abnormalities including translocations, deletions, and duplications, visible in banding cytogenetic techniques, has been reported in autistic patients [1].”
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“…duplications of the chromosome 15q11-13 region are found in 1–3% of children with idiopathic autism (Bolton et al., 2001; Cook et al., 1997; Vorstman et al., 2006) and this genotype closely resembles PWS mUPD subtype, further characterization of autistic symptomatology may help to explain…”
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Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses.
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A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation
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“A recent review estimated that cytogenetically detectable chromosomal abnormalities are found in 7.4% of ASD cases (Vorstman et al., 2006).”
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Autism spectrum disorder model mice: Focus on copy number variation and epigenetics
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“Several studies have confirmed that such abnormalities can be identified in 3%–5% of these patients (Gillberg, 1998; Vorstman et al., 2006).”
BackgroundAutism, language delay and mental retardation in a patient with 7q11 duplication
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A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
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“It is estimated that chromosomal abnormalities, such as translocations, inversions, deletions, and duplications, are present in around 3% of ASD cases [Vorstman et al., 2006].”
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“A few large studies have found recurrent microdeletions or duplications in the 15q11-q13 region for idiopathic epilepsies, autism, and combined schizophrenia and epilepsy [11-16].”
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“literature duplications of the 15q11-q13 region constitute the most frequently reported chromosomal aberration in individuals with Autism Spectrum Disorders (ASDs) [11].”
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“It is further estimated that 3% of autism patients have some type of gross chromosome abnormality, such as a deletion, duplication, inversion, or translocation ( Vorstman et al. 2006 ); however, this figure does not account for submicroscopic cytogenetic abnormalities, which are increasingly becoming evident using new…”
BackgroundCognitive, behavioural and psychiatric phenotypes associated with steroid sulfatase deficiency
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“23 and deletions of 22q11 (Velo-cardio-facial syndrome) are associated with increased autistic traits (Berg et al. 2007; van Rijn et al. 2008; Vorstman et al. 2006a).”
BackgroundSocial Responsiveness and Psychosocial Functioning in Adults with Prader–Willi Syndrome
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“2–q13, the critical region for PWS [27].”
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“Furthermore, the 15q proximal region duplication is the most frequent rearrangement associated with autistic disorders [Vorstman et al., 2006].”
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Type, Topography, and Sequelae of Neuropathological Changes Shaping Clinical Phenotype of Autism
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De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
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“About 3–5% of autistic patients have a chromosome abnormality visible with cytogenetic methods [13].”
BackgroundThe role of SCAMP5 in central nervous system diseases
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Buizer‐Voskamp, J. E., Franke, L., Staal, W., van Daalen, E., Kemner, C., Ophoff, R. A., Vorstman, J. A. S., van Engeland, H., & Wijmenga, C. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.206 · Cited by 5
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Could autism with mental retardation result from digenism and frequent de novo mutations?
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“The high frequency of sporadic MR-ASD if related to AD de novo mutations would result more probably from a great number of different G1 genes than from some particular genes frequently mutated.”
BackgroundInfluentialThe Developmental Neuropathology of Autism
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“[17,18] All ASD cases have shown cytogenetic abnormalities in every chromosome, [19] and CNVs, such as deletions and duplications, are linked with some of ASD.”
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“The most common chromosomal rearrangement is the maternal duplication of 15q11-q13, which accounts for approximately 1-2% of ASD cases (Vorstman et al. 2006).”
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“Various previous studies have analyzed the prevalence and relevance of symptoms of ASD in individuals with PWS [4,8,12–14], finding that some of the mutations identified in segment 15q11–q13 are present in both PWS and ASD, which may indicate a common genetic background [15].”
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Association between Autism Spectrum Disorder and Cancer - a Review from the Literature
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“Previous studies have reported that children with ASD possess a higher number of genetic aberrations, including higher levels of chromosomal rearrangements (Vorstman et al., 2006) and copy number variations (Szatmari et al., 2007).”
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“Even the child psychiatrist should be encouraged to participate in the social support network of parents, helping them on the long journey of raising their children (Wachtel & Carter, 2008).”
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“These studies investigate significant genetic differences between large groups of patients, on the one hand, and groups of healthy individuals, on the other hand (Vorstman et al., 2006a).”
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Autism Susceptibility Genes Identification by Linkage Analysis: A Review
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“These regions are then scrutinized for the presence of genes that potentially are involved in the pathogenesis of autism (Yu et al. 2002; Reddy 2005; Christian et al. 2006; Marshall et al. 2008; Vorstman et al. 2006).”
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“Autism is thought to be a kind of heritable neuropsychiatric disorder [4], which means the genetic factors contribute significantly to its etiology [5].”
BackgroundGenes, Synapses and Autism Spectrum Disorders
Bourgeron, T. (2008) · Research and perspectives in Alzheimer's disease · doi:10.1007/978-3-540-76330-7_13 · Cited by 2
“In approximately 30% of cases, ASD are associated with a known genetic syndrome (e.g., fragile X syndrome, tuberous sclerosis, and neurofibromatosis) or with chromosomal rearrangements (Jacquemont et al. 2006; Vorstman et al. 2006; Freitag 2007; Sebat et al. 2007; Fig. 1). The association with known genetic disorders…”
BackgroundSubtelomeric region of chromosome 2 in patients with autism spectrum disorders
Barbosa-Gonçalves, A., Vendrame-Goloni, C. B., Martins, A. L. B., & Fett‐Conte, A. C. (2008) · Genetics and Molecular Research · doi:10.4238/vol7-2gmr448 · Cited by 2
“Alterations in this region have been observed by other authors in patients with ASD and dysmorphic clinical signs (Ghaziuddin and Burmeister, 1999; Smith et al., 2001; Lukusa et al., 2004; Sherr et al., 2005; Wassink et al., 2005).”
ResultDNA Chip Analysis in Genome Discovery
Nazar, R. N., & Robb, J. (2011) · Wiley eBooks · doi:10.1002/9781119977438.ch2 · Cited by 2
InDels e CNVs pequenas em pacientes com Transtorno do Espectro Autista
Silva, I. M. W. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2017.tde-29052017-145246 · Cited by 2
Holter, M. C., Hewitt, L. T., Nishimura, K. J., Bjorklund, G. R., Shah, S., Fry, N., Rees, K. P., Gupta, T. A., Daniels, C. W., Li, G., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/748087 · Cited by 2
Decoding Autism: The Role of Synaptic Dysfunction in Neurodevelopment
Cetinkaya, F. B., Bandırmalı, D., & Akay, G. G. (2025) · Ankara Üniversitesi Tıp Fakültesi Mecmuası · doi:10.65092/autfm.1715662 · Cited by 1
Ram, T. R., Mu, C., MacEachern, S. J., & Shearer, J. (2026) · Antioxidants · doi:10.3390/antiox15060764 · Cited by 2
“Although these features define the behavioral presentation and diagnostic criteria, autism is increasingly being understood as a biological condition influenced by both genetic and environmental factors [27–30].”
Metadata
- Authors
- Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L.
- Affiliations
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- Corresponding author
- Vorstman, J A S
- Venue
- Molecular Psychiatry
- Published
- 2005-10-04
- Volume
- 11
- Issue
- 1
- Pages
- 18-28
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2134175099
- Cited by
- 353
- References
- 103
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 4 · 2020: 9 · 2019: 15 · 2018: 10 · 2017: 20 · 2016: 11 · 2015: 17 · 2014: 18 · 2013: 21 · 2012: 27
- FWCI
- 14.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Psychiatry (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, chromosomal abnormalities, candidate genomic regions, chromosome 15q11-q13, chromosome 22q11.2, chromosome 2q37, chromosome 17p11.2, segmental duplication
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