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Single Nucleotide Variant (SNV) analysis in Autism Spectrum Disorder

2021-09-23Lecture Restricted access
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dc.contributor.authorVilela, Joana
dc.date.accessioned2022-10-31T12:35:28Z
dc.date.available2022-10-31T12:35:28Z
dc.date.issued2021-09-23
dc.descriptionDesenvolvido no âmbito do NSM - Grupo de Neurogenética e Saúde Mental (INSA/BioISI/FCUL)pt_PT
dc.description.abstractAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns of variable degrees of clinical severity, and an important genetic component. There is strong evidence indicating that neurotransmission and synaptic processes are altered in ASD. Our objective was to identify ultra-rare variants in neurotransmission and synaptic (NS) genes that play a role in ASD, linking mutations to the biological pathways affected. We identified 357 variants in 208 genes in the ASD dataset, defining 7 network communities: Cytochrome P450 metabolism; Ion channel activity; Chemical synapse transmission; Neuronal development; G protein-coupled receptors; Energy metabolism and Neurotransmitter release cycle. The neuronal development community (27,6% of network cases; 54 genes), the Cytochrome P450 metabolism community (18,8% of network cases; 33 genes) and the G protein-coupled receptors community (16,1% of network cases; 32 genes), are the biological communities with the highest number of cases affected by ultra-rare SNVs in the network analysed. The majority of the network cases analyzed has mutations in genes involved in neuronal development, supporting the relevance of this pathway in ASD. This study reinforces the synaptic and neurotransmitter pathway hypothesis as one of the disease-relevant genetic drivers for ASD.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8281
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.titleSingle Nucleotide Variant (SNV) analysis in Autism Spectrum Disorderpt_PT
dc.typelecture
dspace.entity.typePublication
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.titlePalestras do DPSPDNT, INSA, 23 Setembro 2021pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typelecturept_PT

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