Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding

Valentino Romano, Francesco Acquadro, Valentino Romano, Francesco Calì, Silvia Sbacchi

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22 Citazioni (Scopus)


We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to thegenes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1-4]. We first applied a two-step enrichment strategy for autism-specific genes. We fished out from the four mentioned studiesa list of 2928 genes overall overlapping 328 CNVs in patients and we first selected a sub-group of 2044 genes afterexcluding those ones that are also involved in CNVs reported in the Database of Genomic Variants (enrichment step 1).We then selected from the step 1-enriched list a sub-group of 514 genes each of which was found to be deleted or duplicatedin at least two patients (enrichment step 2). The number of statistically significant processes and pathways identifiedby the Database for Annotation, Visualization and Integrated Discovery and Ingenuity Pathways Analysis softwares withthe step 2-enriched list was significantly higher compared to the step 1-enriched list. In addition, statistically significantGO terms, biofunctions and pathways related to nervous system development and function were exclusively identified bythe step 2-enriched list of genes. Interestingly, 21 genes were associated to axon growth and pathfinding. The latter genesand other ones associated to nervous system in this study represent a new set of autism candidate genes deserving furtherinvestigation. In summary, our results suggest that the autism’s “connectivity genes” in some patients affect very earlyphases of neurodevelopment, i.e., earlier than synaptogenesis.
Lingua originaleEnglish
pagine (da-a)136-145
Numero di pagine10
RivistaCurrent Genomics
Stato di pubblicazionePublished - 2010

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.2700.2716???


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