The search for autism disease genes

Wassink, Thomas H; Brzustowicz, Linda M; Bartlett, Christopher W; Szatmari, Peter

doi:10.1002/mrdd.20041

Cited by 89Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

The search for autism disease genes

Wassink, Thomas H, Brzustowicz, Linda M, Bartlett, Christopher W, Szatmari, Peter·2004·Mental Retardation and Developmental Disabilities Research Reviews

DOI 10.1002/mrdd.20041

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Abstract

Autism is a heritable disorder characterized by phenotypic and genetic complexity. This review begins by surveying current linkage, gene association, and cytogenetic studies performed with the goal of identifying autism disease susceptibility variants. Though numerous linkages and associations have been identified, they tend to diminish upon closer examination or attempted replication. The review therefore explores challenges to current methodologies presented by the complexities of autism that might underlie some of the current difficulties, and finishes by describing emerging phenotypic, statistical, and molecular investigational approaches that offer hope of overcoming those challenges. © 2004 Wiley‐Liss, Inc. MRDD Research Reviews 2004;10:272–283.

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The cause of autism remains poorly defined, with both genetic and environmental factors implicated.
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Familial Aggregation in Specific Language Impairment
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Quantifying Dimensions in Autism: A Factor-Analytic Study
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Familial Factors Influence Level of Functioning in Pervasive Developmental Disorder
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Examination of Potential Overlap in Autism and Language Loci on Chromosomes 2, 7, and 13 in Two Independent Samples Ascertained for Specific Language Impairment
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Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey
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Linkage of a composite inhibitory phenotype to a chromosome 22q locus in eight Utah families
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Genetic studies in autistic disorder and chromosome 15
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The Finland–United States Investigation of Non–Insulin‐Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes
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Transmission disequilibrium studies of the serotonin 5‐HT2A receptor gene (HTR2A) in autism
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Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder
Betancur, C., Corbex, M. A., Spielewoy, C., Philippe, A., Laplanche, J., Launay, J., Gillberg, C., Mouren-Siméoni, M., Hamon, M., Bruno Giros, A., et al. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000923 · Cited by 90 · see citing works
Schizophrenia and smoking: Evidence for a common neurobiological basis?
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5-HTTLPR variants not associated with autistic spectrum disorders
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Bayesian Linkage Analysis, or: How I Learned to Stop Worrying and Love the Posterior Probability of Linkage
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Chromosomal Abnormalities in a Series of Children with Autistic Disorder
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The replication requirement
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Evaluation of FOXP2 as an autism susceptibility gene
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Power to Detect Linkage Based on Multiple Sets of Data in the Presence of Locus Heterogeneity: Comparative Evaluation of Model-Based Linkage Methods for Affected Sib Pair Data
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Examination of NRCAM, LRRN3, KIAA0716, and LAMB1as autism candidate genes
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Autism and autism risk in siblings of children with specific language impairment
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Bayesian analysis of a previously published genome screen for panic disorder reveals new and compelling evidence for linkage to chromosome 7
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Psychometric assessment of first-degree relatives of 62 autistic probands in Utah
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Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children
Persico, A. M., Pascucci, T., Puglisi‐Allegra, S., Militerni, R., Bravaccio, C., Schneider, C., Melmed, R. D., Trillo, S., Montecchi, F., Palermo, M. T., et al. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001069 · Cited by 56 · see citing works
Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio‐facio‐cutaneous syndrome?
Rauen, K. A., Albertson, D. G., Pinkel, D., & Cotter, P. D. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10478 · Cited by 56 · see citing works
Linkage study of two polymorphisms at the dopamine D3 receptor gene and attention-deficit hyperactivity disorder.
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Genetic polymorphisms of serotonin and dopamine transporters in mental disorders.
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Comparison of ‘Model-Free’ and ‘Model-Based’ Linkage Statistics in the Presence of Locus Heterogeneity: Single Data Set and Multiple Data Set Applications
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Testing for linkage of eye tracking dysfunction and schizophrenia to markers on chromosomes 6, 8, 9, 20, and 22 in families multiply affected with schizophrenia
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Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
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No association between single nucleotide polymorphisms in DLX6 and piccolo genes at 7q21‐q22 and autism
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Untitled work
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6
Untitled work
(1997) · doi:10.1002/(sici)1096-8628(19970725)74:4

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Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains
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Consensus Paper: Pathological Role of the Cerebellum in Autism
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Neurobiological effects of intraventricular propionic acid in rats: Possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders
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The eloquent ape: genes, brains and the evolution of language
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High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders
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Siblings of individuals with autism spectrum disorders across the life course
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Volkmar, F. R., State, M. W., & Klin, A. J. (2009) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.02010.x · Cited by 235 · see citing works
Toward a developmental neurobiology of autism
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A Short Review on the Current Understanding of Autism Spectrum Disorders
Park, H. R., Lee, J. M., Moon, H. E., Lee, D. S., Kim, B.-N., Kim, J., Kim, D. G., & Paek, S. H. (2016) · Experimental Neurobiology · doi:10.5607/en.2016.25.1.1 · Cited by 214 · see citing works
Advances in behavioral genetics: mouse models of autism
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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
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes
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Understanding environmental contributions to autism: Causal concepts and the state of science
Hertz‐Picciotto, I., Schmidt, R. J., & Krakowiak, P. (2018) · Autism Research · doi:10.1002/aur.1938 · Cited by 192 · see citing works
Fmr1 KO Mice as a Possible Model of Autistic Features
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Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
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Tangled webs: Tracing the connections between genes and cognition
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Elevated levels of growth‐related hormones in autism and autism spectrum disorder
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Cell adhesion molecules at the synapse
Gerrow, K. (2006) · Frontiers in bioscience · doi:10.2741/1978 · Cited by 133 · see citing works
Evidence for multiple loci from a genome scan of autism kindreds
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001874 · Cited by 129 · see citing works
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The Controversy That Will Not Go Away: Vaccines and Autism
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Authors: Wassink, T. H., Brzustowicz, L. M., Bartlett, C. W., & Szatmari, P.
Affiliations: University of Iowa (US)
Rutgers, The State University of New Jersey (US)
Corresponding author: Wassink, Thomas H
ORCID: Wassink, Thomas H
Brzustowicz, Linda M
Bartlett, Christopher W
Venue: Mental Retardation and Developmental Disabilities Research Reviews
Publisher: Wiley
Published: 2004-11
Volume: 10
Issue: 4
Pages: 272-283
ISSN: 1080-4013 (ISSN-L)
1098-2779
DOI: 10.1002/mrdd.20041
OpenAlex: W2082952466
Cited by: 89
References: 146
Citations by year: 2026: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 2 · 2014: 3 · 2013: 3 · 2012: 5
FWCI: 1.22
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 81 d)
Locations: Mental Retardation and Developmental Disabilities Research Reviews (publishedVersion)
PubMed (publishedVersion)
Rutgers University Community Repository (Rutgers University) (submittedVersion)
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 › Genetic Associations and Epidemiology
Keywords: autism spectrum disorder, autism genetics, susceptibility genes, genetic linkage, genetic association studies, cytogenetics, genetic heterogeneity, phenotypic complexity
MeSH terms: Autistic Disorder, Chromosomes, Human, Pair 2, Cytogenetics, Humans, Hybridization, Genetic, Language Disorders, Genetic Linkage, Phenotype, Gene Expression, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis

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