Abstract
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Autistic Disorder / genetics*
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Autistic Disorder / metabolism
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Carrier Proteins
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Cell Adhesion Molecules, Neuronal
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Genetic Counseling
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Genetic Testing*
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Genetics, Medical
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Humans
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MSX1 Transcription Factor / genetics
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MSX1 Transcription Factor / metabolism
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Methyl-CpG-Binding Protein 2 / genetics
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Methyl-CpG-Binding Protein 2 / metabolism
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Microfilament Proteins / genetics
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Microfilament Proteins / metabolism
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / metabolism
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PTEN Phosphohydrolase / genetics
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PTEN Phosphohydrolase / metabolism
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Phenotype
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Tensins
Substances
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Carrier Proteins
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Cell Adhesion Molecules, Neuronal
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MSX1 Transcription Factor
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Membrane Proteins
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Methyl-CpG-Binding Protein 2
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Microfilament Proteins
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Nerve Tissue Proteins
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SHANK3 protein, human
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Tensins
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neuroligin 3
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PTEN Phosphohydrolase