Etiological heterogeneity in autism spectrum disorders: role of rare variantsReportar como inadecuado




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* Corresponding author 1 NPS-01 - Génétique de l-autisme = Genetics of Autism NPS - Neuroscience Paris Seine 2 Physiopathologie des Maladies du Système Nerveux Central 3 Foundation for Autism Research

Abstract : Autism spectrum disorders ASD encompass a group of behaviorally defined developmental disabilities characterized by marked clinical and etiological heterogeneity. There is increasing evidence that ASD can arise from rare highly penetrant mutations and genomic imbalances. There are at present over 100 disease genes and 50 recurrent genomic imbalances implicated in the etiology of ASD. These genes and loci have so far all been causally implicated in intellectual disability, indicating that these two neurodevelopmental disorders share common genetic bases. Similarly, many genes involved in epilepsy can also result in ASD. These observations indicate that these genes cause a continuum of neurodevelopmental disorders that manifest in different ways depending on other genetic, environmental or stochastic factors. Increased recognition of the etiological heterogeneity of ASD will expand the number of target genes for neurobiological investigations, reveal functional pathways and assist the development of novel therapeutic approaches.

Keywords : metabolic disorder epilepsy intellectual disability autism genetic syndrome copy number variation deletion duplication mutation





Autor: Catalina Betancur - Mary Coleman -

Fuente: https://hal.archives-ouvertes.fr/



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