The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder
| Autor: | Mark N. Ziats, Owen M. Rennert |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 Autistic spectrum disorder phenotype Genetics Medical Mini Review Population pathways Epigenetics of autism Computational biology Dna variants Biology behavioral disciplines and activities medical 03 medical and health sciences mental disorders medicine Genetics education Genetics (clinical) education.field_of_study autistic spectrum disorder medicine.disease Phenotype Structure and function lcsh:Genetics 030104 developmental biology Autism spectrum disorder Molecular Medicine Autism autistic disorder |
| Zdroj: | Frontiers in Genetics Frontiers in Genetics, Vol 7 (2016) |
| ISSN: | 1664-8021 |
| Popis: | The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome. |
| Databáze: | OpenAIRE |
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