Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

Vorstman, J A S; Staal, W G; van Daalen, E; van Engeland, H; Hochstenbach, P F R; Franke, L

doi:10.1038/sj.mp.4001757

Cited by 353Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

Vorstman, J A S, Staal, W G, van Daalen, E, van Engeland, H, Hochstenbach, P F R, Franke, L·2006·Molecular Psychiatry

DOI 10.1038/sj.mp.4001757

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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 Geneâ€‰Ã—â€‰Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [4]
A subset of the genetic region associated with Prader-Willi syndrome 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.
“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
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.
“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]
Microduplications or microdeletions of the region 15q11-q13 have been repeatedly reported in subjects with autism.
“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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Castelli, F. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.1.138k · Cited by 87 · see citing works
Association between the FOXP2 gene and autistic disorder in Chinese population
Gong, X., Jia, M., Ruan, Y., Mei, S., Liu, J., Wu, S., Guo, Y., Yang, J., Ling, Y., Yang, X., et al. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20162 · Cited by 84 · see citing works
Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network
Devlin, B., Bennett, P. J., Dawson, G., Figlewicz, D. A., Grigorenko, E. L., McMahon, W., Minshew, N. J., Pauls, D. L., Smith, M., Spence, M. A., et al. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20125 · Cited by 83 · see citing works
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
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Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism
Nurmi, E. L., Amin, T. T., Olson, L. M., Jacobs, M. M., McCauley, J. L., Lam, A. Y., Organ, E. L., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001283 · Cited by 75 · see citing works
Presence of Large Deletions in Kindreds with Autism
Yu, C., Dawson, G., MUNSON, J. A., D’Souza, I., Osterling, J., Estes, A. M., Leutenegger, A., Flodman, P. L., Smith, M., Raskind, W. H., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341291 · Cited by 64 · see citing works
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1as autism candidate genes
Hutcheson, H. B., Olson, L. M., Bradford, Y., Folstein, S. E., Santangelo, S. L., Sutcliffe, J. S., & Haines, J. L. (2004) · BMC Medical Genetics · doi:10.1186/1471-2350-5-12 · Cited by 63 · see citing works
Neurogenomics: at the intersection of neurobiology and genome sciences
Boguski, M. S., & Jones, A. R. (2004) · Nature Neuroscience · doi:10.1038/nn1232 · Cited by 63 · see citing works
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism
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Linkage study of two polymorphisms at the dopamine D3 receptor gene and attention-deficit hyperactivity disorder.
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Chromosomal Anomalies in Individuals with Autism
Castermans, D., Wilquet, V., Steyaert, J. G., de Ven, W. V., Fryns, J., & Devriendt, K. (2004) · Autism · doi:10.1177/1362361304042719 · Cited by 45 · see citing works
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
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Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder
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A comparison of obstetric and neonatal complications between children with autistic disorder and their siblings
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Genetic tests of biologic systems in affective disorders
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Untitled work
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6
Untitled work
(2000) · doi:10.1002/1098-2779(2000)6:2

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Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
“2 (MIM 610883), most likely because we limited our cases to more strictly defined ASD.”
BackgroundInfluential
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421 · see citing works
“UBE3A 15q11-13 chr15: 21200234–26208861 Dup MLPA, qPCR 8 0 7 (5) 0 6:0:2 (75%) 1 3 10(25) ,0.”
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works
Autism risk factors: genes, environment, and gene-environment interactions
Chaste, P., & Leboyer, M. (2012) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2012.14.3/pchaste · Cited by 807 · see citing works
“Notably, microduplications or microdeletions of the region 15q11q13, which is subject to parental imprinting, have been repeatedly reported in subjects with autism.(71,72) Moreover, in Turner's syndrome, women who have monosomy of the X chromosome (X0), often have autistic traits which are correlated with the parental…”
Background
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
“Microscopically visible chromosomal rearrangements such as deletions and duplications have been identified in 1–3% of autism subjects (5).”
Background
Identifying autism loci and genes by tracing recent shared ancestry
Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737 · see citing works
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681 · see citing works
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
Disruption of neurexin 1 associated with autism spectrum disorder
Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.011 · Cited by 578 · see citing works
Autism spectrum disorders-a genetics review
Miles, J. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ff67ba · Cited by 567 · see citing works
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A., Winter, D., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711555105 · Cited by 556 · see citing works
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
Schaefer, G. B., & Mendelsohn, N. J. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.32 · Cited by 537 · see citing works
Psychiatric genetics: progress amid controversy
Burmeister, M., McInnis, M. G., & Zöllner, S. K. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2381 · Cited by 522 · see citing works
“Novel structural mutations Large cytogenetic aberration”
Background
Abnormal melatonin synthesis in autism spectrum disorders
Melke, J., Goubran Botros, H., Chaste, P., Betancur, C., Nygren, G., Anckarsäter, H., Rastam, M., Ståhlberg, O., Gillberg, I. C., Delorme, R., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002016 · Cited by 511 · see citing works
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
Nakatani, J., Tamada, K., Hatanaka, F., Ise, S., Ohta, H., Inoue, K., Tomonaga, S., Watanabe, Y., Chung, Y. J., Banerjee, R., et al. (2009) · Cell · doi:10.1016/j.cell.2009.04.024 · Cited by 482 · see citing works
“Autism is one of the most heritable neuropsychiatric disorders (Geschwind and Levitt, 2007), suggesting that genetic factors play an important role in its etiology (Vorstman et al., 2006).”
Autism genetics: opportunities and challenges for clinical translation
Vorstman, J. A. S., Parr, J. R., Moreno‐De‐Luca, D., Anney, R., Nürnberger, J. I., & Hallmayer, J. F. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.4 · Cited by 466 · see citing works
“The combination of observations obtained from karyotyping and FISH provided a first glimpse of the genetic heterogeneity of ASDs 13 .”
Self-citation
The Genetic Landscapes of Autism Spectrum Disorders
Huguet, G., Ey, E., & Bourgeron, T. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153431 · Cited by 447 · see citing works
AutDB: a gene reference resource for autism research
Basu, S. N., Kollu, R., & Banerjee-Basu, S. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn835 · Cited by 394 · see citing works
“In a minor proportion of cases, chromosomal aberrations have been identified (13).”
Background
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000536 · Cited by 424 · see citing works
Genomic rearrangements and sporadic disease
Lupski, J. R. (2007) · Nature Genetics · doi:10.1038/ng2084 · Cited by 424 · see citing works
“High-resolution genome analysis may identify the cause of traits previously intractable to conventional genetic analysis, as was shown recently for autism spectrum disorder”
Background
Autism Spectrum Disorders and Childhood-Onset Schizophrenia: Clinical and Biological Contributions to a Relation Revisited
Rapoport, J. L., Chavez, A. M., GREENSTEIN, D. K., Addington, A. M., & Gogtay, N. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31818b1c63 · Cited by 401 · see citing works
The developmental neurobiology of autism spectrum disorder
DiCicco-Bloom, E., Lord, C., Zwaigenbaum, L., Courchesne, E., Dager, S. R., Schmitz, C., Schultz, R. T., Crawley, J., & Young, L. J. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.1712-06.2006 · Cited by 434 · see citing works
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
Stankiewicz, P., & Beaudet, A. L. (2007) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2007.04.009 · Cited by 324 · see citing works
“[67 ].”
A unified genetic theory for sporadic and inherited autism
Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705803104 · Cited by 319 · see citing works
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
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., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043166 · Cited by 305 · see citing works
Geneâ€‰Ã—â€‰Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283 · see citing works
Autism spectrum disorder: Consensus guidelines on assessment, treatment and research from the British Association for Psychopharmacology
Howes, O. D., Rogdaki, M., Findon, J. L., Wichers, R. H., Charman, T., King, B. H., Loth, E., McAlonan, G. M., McCracken, J. T., Parr, J. R., et al. (2018) · Journal of Psychopharmacology · doi:10.1177/0269881117741766 · Cited by 342 · see citing works
“2 and Xq (Vorstman et al., 2006).”
Changes in the Development of Striatum Are Involved in Repetitive Behavior in Autism
Langen, M., Bos, D., Noordermeer, S. D. S., Nederveen, H., van Engeland, H., & Durston, S. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.08.013 · Cited by 256 · see citing works
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works
Ubiquitination in postsynaptic function and plasticity
Mabb, A. M., & Ehlers, M. D. (2010) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100109-104129 · Cited by 255 · see citing works
“MuSK activation is required for AChR receptor clustering and the proper formation of the NMJ (DeChiara et al. 1996, Wallace 1989).”
Heterogeneous dysregulation of microRNAs across the autism spectrum
Abu-Elneel, K., Liu, T., Gazzaniga, F. S., Nishimura, Y., Wall, D. P., Geschwind, D. H., Lao, K., & Kosik, K. S. (2008) · neurogenetics · doi:10.1007/s10048-008-0133-5 · Cited by 271 · see citing works
“Cytogenetic abnormalities at many different loci on all chromosomes have been detected in >5% of affected children [12], and de novo copy number variation (CNV) has been associated with autism spectrum disorders (ASDs) [13, 14, 10].”
Background
Genetics and epigenetics of autism spectrum disorder—current evidence in the field
Wiśniowiecka‐Kowalnik, B., & Nowakowska, B. (2019) · Journal of Applied Genetics · doi:10.1007/s13353-018-00480-w · Cited by 235 · see citing works
The prodrome of autism: early behavioral and biological signs, regression, peri‐ and post‐natal development and genetics
Yirmiya, N., & Charman, T. (2010) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2010.02214.x · Cited by 224 · see citing works
“3 (Freitag, 2007; Vorstman et al., 2006).”
The ups and downs of Wnt signaling in prevalent neurological disorders
Ferrari, G. V. D., & Moon, R. T. (2006) · Oncogene · doi:10.1038/sj.onc.1210064 · Cited by 221 · see citing works
“Third, twin and family studies have provided compelling evidence for a strong genetic component among autistic individuals (Folstein et al., 2003; Hu-Lince et al., 2005; Vorstman et al., 2006).”
Background
Genetics of autistic disorders: review and clinical implications
Freitag, C. M., Staal, W., Klauck, S. M., Duketis, E., & Waltes, R. (2009) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-009-0076-x · Cited by 206 · see citing works
“Some studies aimed to elicit candidate genes or candidate gene regions by a detailed analysis of the boundaries of the cytogenetic abnormalities found in AD [82].”
InfluentialSelf-citation
Recent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 203 · see citing works
A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins
Corbett, B. A., Kantor, A. B., Schulman, H., Walker, W. L., Lit, L., Ashwood, P., Rocke, D. M., & Sharp, F. R. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001943 · Cited by 197 · see citing works
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
Martin, C. L., Duvall, J. A., Ilkin, Y., Simon, J. S., Arreaza, M. G., Wilkes, K., Alvarez‐Retuerto, A., Whichello, A., Powell, C. M., Rao, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30530 · Cited by 198 · see citing works
“Using these strategies, several studies have implicated the chromosomal region 16p13 [IMGSAC, 1998; Philippe et al., 1999; IMGSAC, 2001; Lucarelli et al., 2003; Bhalla et al., 2004; Barnby et al., 2005; Vorstman et al., 2006].”
Method
Autistic spectrum disorders: A review of clinical features, theories and diagnosis
Fakhoury, M. (2015) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2015.04.003 · Cited by 203 · see citing works
“Among these abnormalities, it was found that GABA receptor subunit genes GABRB3, GABRA5 and GABRG3 were closely associated with the pathophysiology of ASD (Kim et al., 2006; Klauck, 2006; Vorstman et al., 2006).”
Background
The array CGH and its clinical applications
Shinawi, M. S., & Cheung, S. W. (2008) · Drug Discovery Today · doi:10.1016/j.drudis.2008.06.007 · Cited by 200 · see citing works
Connecting Genes to Brain in the Autism Spectrum Disorders
Abrahams, B. S., & Geschwind, D. H. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.47 · Cited by 193 · see citing works
“Cytogenetic studies identified recurrent, maternally inherited duplications of chromosome 15q11-13, which along with other rare chromosomal abnormalities remains an important cause of the ASDs.(3) More recently, individual genes of major effect (eg, NLGN4, NRXN1, and SHANK3) have been identified by resequencing or arr…”
Influential
Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
Liu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2009.140 · Cited by 195 · see citing works
The study of autism as a distributed disorder
Müller, R. (2007) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20141 · Cited by 194 · see citing works
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., AbdulSabur, N., Higgins, A. M., Shprintzen, R. J., & Kates, W. R. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0308-6 · Cited by 183 · see citing works
Autism genetics: searching for specificity and convergence
Berg, J. M., & Geschwind, D. H. (2012) · Genome Biology · doi:10.1186/gb-2012-13-7-247 · Cited by 192 · see citing works
“Additional examples of ‘major hits’ come from early cyto genetic studies, such as maternally inherited dupli cations of 15q1115q13, deletions of 22q13, deletions of 2q37, and disruptions in 5p15, 17p11, and Xp22 [74].”
Background
Etiologies underlying sex differences in autism spectrum disorders
Schaafsma, S. M., & Pfaff, D. W. (2014) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2014.03.006 · Cited by 178 · see citing works
“3 have been reported in individuals diagnosed with ASD (Chocholska et al., 2006; Chung et al., 2011; Kent et al., 2008; Vorstman et al., 2006; Yan et al., 2005).”
Obsessive-compulsive disorder
Heyman, I. (2006) · BMJ · doi:10.1136/bmj.333.7565.424 · Cited by 180 · see citing works
Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31815efdd7 · Cited by 173 · see citing works
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
Rosenfeld, J. A., Ballif, B. C., Torchia, B. S., Sahoo, T., Ravnan, J. B., Schultz, R., Lamb, A., Bejjani, B. A., & Shaffer, L. G. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f0c5f3 · Cited by 169 · see citing works
Contact in the genetics of autism and schizophrenia
Burbach, J. P. H., & van der Zwaag, B. (2009) · Trends in Neurosciences · doi:10.1016/j.tins.2008.11.002 · Cited by 168 · see citing works
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.138 · Cited by 161 · see citing works
“11,12 Our assessment shows that, although present in the cohorts we analyzed, the frequency of these gains in ASD populations is close to 1 in 500, below the previously reported 1%.”
Background
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
Urraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T. (2013) · Autism Research · doi:10.1002/aur.1284 · Cited by 164 · see citing works
“2-q13 Syndrome Includes Autism,”
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
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“The regions 15q11–q13 contains a large cluster of imprinted genes, and cytological abnormalities in this region have consistently been linked to autism (ClaytonSmith et al., 1993; Flejter et al., 1996; Browne et al., 1997; Cook et al., 1997a; Schroer et al., 1998; Mohandas et al., 1999; Roberts et al., 2002; Battaglia…”
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Genetics of autism spectrum disorders
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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
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“Persons with isodicentric 15 syndrome are also at high risk for autism and maternally inherited duplications of the 15q11–q13 region are relatively frequent in idiopathic autism, seen in 1–3% of these cases (e.g., Bolton et al. 2001; Vortsman et al. 2006).”
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Clinical Utility of Contemporary Molecular Cytogenetics
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“This region spans the imprinted Angelman/Prader-Willi region, and both Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are themselves important single locus models of ASD (Vorstman et al., 2006; Depienne et al., 2009; Dykens et al., 2011).”
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Genomic Copy Number Variation in Disorders of Cognitive Development
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“In several candidate chromosomal regions with relevance for ASDs, duplication of human chromosome 15q11-13 is the most frequent chromosome rearrangement, found in 1–4% of ASDs patients [5].”
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Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117 · see citing works
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
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“The single most consistently and frequently reported genomic aberration associated with ASD is duplication at chromosome 15q11-q13 [Vorstman et al., 2006].”
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Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies
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“…Joubert syndrome and Rett syndrome), structural chromosome rearrangements (for example, maternally transmitted 15q11–q13 duplications and many others) [reviewed by Vorstman et al., 2006], and mutations in several genes with major effect (NLGN3 , NLGN4 , NRXN1 , SHANK3) [Toro et al., 2010].”
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Phenomic, Convergent Functional Genomic, and biomarker studies in a stress‐reactive genetic animal model of bipolar disorder and co‐morbid alcoholism
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“One interesting recurring finding is a higher prevalence of autism spectrum disorder symptoms in the uniparental disomy genetic subtype of Prader-Willi syndrome when compared to the deletion subtype,(86,87) presumably due to the correlation between chromosome 15q11-13 and autism spectrum disorder.(88,89) Specifically,…”
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“It is worth noting that larger-scale genomic changes also have been associated with autism (89).”
Genetics of autism spectrum disorder
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“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).”
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The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments
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“[22].”
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“The characterization of balanced translocations is particularly useful compared with chromosomal deletions or duplications, since the identification of the breakpoint regions allows the selection of a small number of candidate genes at or near the breakpoints (23,24).”
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Autism: highly heritable but not inherited
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Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
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“1 [1-8].”
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“An array of approaches, including genome-wide association studies, genetic linkage and expression analysis have been utilized to identify individual genes contributing to ASD (Veenstra-VanderWeele and Cook, 2004; Vorstman et al., 2006; Freitag, 2007; Gupta and State, 2007; Abrahams and Geschwind, 2008; Wang et al., 20…”
Method
Association and mutation analyses of 16p11.2 autism candidate genes
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11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
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“Chromosomal abnormalities including submicroscopic deletions and duplications are the most common recognized cause of GDD, intellectual disability, and autism spectrum disorders (ASDs) [Menten et al., 2006; Vorstman et al., 2006; Abrahams and Geschwind, 2008; Vissers et al., 2010].”
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Autistic-like symptomatology in Prader-Willi syndrome: A review of recent findings
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“Chromosome 15q11-q13 duplications are the most common alteration in autism in prior studies [ 11 ,27-30].”
Influential
Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism
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“A significant number of chromosomal CNVs, both duplications and deletions, have been associated with autistic manifestations [Vorstman et al., 2006].”
Background

Overview of cytogenetic regions of interest (CROIs) associated with the autism phenotype across the human genome
Vorstman, J. A. S., Staal, W., Hochstenbach, P. F. R., Franke, L., van Daalen, E., & van Engeland, H. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001781 · Cited by 134 · see citing works
Self-citation
Molecular Cytogenetics of Autism
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Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements
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Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
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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
ORCID: Vorstman, J A S
Staal, W G
Franke, L
Venue: Molecular Psychiatry
Publisher: Springer Science and Business Media LLC
Published: 2005-10-04
Volume: 11
Issue: 1
Pages: 18-28
ISSN: 1359-4184 (ISSN-L)
1476-5578
DOI: 10.1038/sj.mp.4001757
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

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