Abstract
Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. It is often associated with other conditions, such as disorders of the CNS (tuberous sclerosis), developmental delay, attention deficit, epilepsy, and anxiety and mood disorders. Our survey found cytogenetically visible chromosomal anomalies in ∼7.4% (129 / 1749) of autistic patients documented as well as several sub-microscopic variants. Almost every chromosome is affected by numeric or structural aberrations. Among the most consistent cytogenetics findings are fragile X and duplication of maternal 15q11-q13. Molecular cytogenetics, together with genome scans and linkage / association studies, point to ≥22 chromosome regions harbouring putative autism susceptibility genes, such as 2q32, 3q25-q27, 7q31-q35, 15q11-q13, 16p13, Xp22, and Xq13. We hypothesize that there might be at least three types of autism susceptibility genes / mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. The genes / mutations could act alone or interact with other genetic and / or epigenetic or environmental factors, causing autism or related disorders. This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. To facilitate ongoing research we have established a new database of autism-associated chromosomal anomalies (http: / / tcag.bioinfo. sickkids.on.ca / autism).
Keywords: autistic spectrum disorder, hromosome anomalies, molecular cytogenetics, genomics, 7q, 15q
Current Genomics
Title: Molecular Cytogenetics of Autism
Volume: 5 Issue: 4
Author(s): Jie Xu, Lonnie Zwaigenbaum, Peter Szatmari and Stephen W. Scherer
Affiliation:
Keywords: autistic spectrum disorder, hromosome anomalies, molecular cytogenetics, genomics, 7q, 15q
Abstract: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. It is often associated with other conditions, such as disorders of the CNS (tuberous sclerosis), developmental delay, attention deficit, epilepsy, and anxiety and mood disorders. Our survey found cytogenetically visible chromosomal anomalies in ∼7.4% (129 / 1749) of autistic patients documented as well as several sub-microscopic variants. Almost every chromosome is affected by numeric or structural aberrations. Among the most consistent cytogenetics findings are fragile X and duplication of maternal 15q11-q13. Molecular cytogenetics, together with genome scans and linkage / association studies, point to ≥22 chromosome regions harbouring putative autism susceptibility genes, such as 2q32, 3q25-q27, 7q31-q35, 15q11-q13, 16p13, Xp22, and Xq13. We hypothesize that there might be at least three types of autism susceptibility genes / mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. The genes / mutations could act alone or interact with other genetic and / or epigenetic or environmental factors, causing autism or related disorders. This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. To facilitate ongoing research we have established a new database of autism-associated chromosomal anomalies (http: / / tcag.bioinfo. sickkids.on.ca / autism).
Export Options
About this article
Cite this article as:
Xu Jie, Zwaigenbaum Lonnie, Szatmari Peter and Scherer W. Stephen, Molecular Cytogenetics of Autism, Current Genomics 2004; 5 (4) . https://dx.doi.org/10.2174/1389202043349246
DOI https://dx.doi.org/10.2174/1389202043349246 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Assessment of Possible Drug Interactions in Patients with Psoriasis and Associated Comorbid Medical Conditions: An Observational Study
Reviews on Recent Clinical Trials MCI Patients Declining and Not-Declining at Mid-Term Follow-Up: FDG-PET Findings
Current Alzheimer Research Complex and Differential Glial Responses in Alzheimer´s Disease and Ageing
Current Alzheimer Research A Review on Chitosan in Drug Delivery for Treatment of Neurological and Psychiatric Disorders
Current Pharmaceutical Biotechnology The Calcium-Sensing Receptor as a Regulator of Cellular Fate in Normal and Pathological Conditions
Current Molecular Medicine Involvement of Potassium and Chloride Channels and Other Transporters in Volume Regulation by Spermatozoa
Current Pharmaceutical Design Neuropsychiatric Disturbances in Alzheimer’s Disease: What Have We Learned from Neuropathological Studies?
Current Alzheimer Research Can FreeSurfer Compete with Manual Volumetric Measurements in Alzheimer’s Disease?
Current Alzheimer Research Antioxidant Capacity, Phytochemical Analysis and Identification of Active Compounds in Anchomanes difformis
The Natural Products Journal Anxiety: A Systematic Review of Neurobiology, Traditional Pharmaceuticals and Novel Alternatives from Medicinal Plants
CNS & Neurological Disorders - Drug Targets The Role of Folate-supplementation in Depression: A Narrative Review
Current Psychopharmacology Inflammatory Process in Parkinsons Disease: Role for Cytokines
Current Pharmaceutical Design Curcumin, Resveratrol and Cannabidiol as Natural Key Prototypes in Drug Design for Neuroprotective Agents
Current Neuropharmacology Microtubules (tau) as an Emerging Therapeutic Target: NAP (Davunetide)
Current Pharmaceutical Design Neurological Disorders of Purine and Pyrimidine Metabolism
Current Topics in Medicinal Chemistry Synthesis and Anticonvulsant Activity Evaluation of Some 1-alkoxy-4-(1H- 1,2,4-triazol-1-yl)phthalazines
Letters in Drug Design & Discovery Sodium Channel Blocking Activity and In-vivo Testing of New Phenylimidazole Derivatives
Letters in Drug Design & Discovery Laterality of Brain Activation for Risk Factors of Addiction
Current Drug Abuse Reviews Editorial
Drug Delivery Letters PDE5 Inhibitor Treatment Options for Urologic and Non-Urologic Indications: 2012 Update
Current Pharmaceutical Design