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CNV Characterization, Inheritance and Phenotypic Correlations in Families With Autism

2013-06Documento de conferência Acesso aberto
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dc.contributor.authorC. Conceição, Inês
dc.contributor.authorCorreia, Catarina
dc.contributor.authorOliveira, Bárbara
dc.contributor.authorM. Rama, Maria
dc.contributor.authorCafé, Cátia
dc.contributor.authorAlmeida, Joana
dc.contributor.authorMouga, Susana
dc.contributor.authorDuque, Frederico
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorM. Vicente, Astrid
dc.date.accessioned2013-06-25T11:39:00Z
dc.date.available2013-06-25T11:39:00Z
dc.date.issued2013-06
dc.description.abstractAutism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%1. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNVs), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder2. However, to adequately assess pathogenicity, a detailed characterization of patients CNVs and phenotype is required. The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the AGP genome-wide CNV results using 1M SNP microarray2 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 291 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs in regions associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and phenotypic correlations.por
dc.description.sponsorshipThis work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (Portugal).por
dc.identifier.urihttp://hdl.handle.net/10400.18/1639
dc.language.isoengpor
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.subjectAutismpor
dc.subjectAutism Spectrum Disorderspor
dc.subjectASDpor
dc.titleCNV Characterization, Inheritance and Phenotypic Correlations in Families With Autismpor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceParis, Françapor
oaire.citation.titleEuropean Human Genetics Conference, 8-11 june 2013por
rcaap.rightsopenAccesspor
rcaap.typeconferenceObjectpor

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