Browsing by Author "Correia, Catarina"
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- Characterization and expression analysis of a CNV at chromosome 10q22 encompassing 14 genes in an autistic patientPublication . C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar; M. Vicente, AstridAutism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNV), 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 disorder. However, to adequately assess pathogenicity, a detailed characterization of patients CNVs is required. We have been characterizing potentially pathogenic rare CNVs identified by the AGP whole genome CNV analysis of 1,275 ASD individuals. CNV validation in patients and parents and characterization were performed by qPCR and Long-range PCR. One autistic patient showed a rare deletion absent in 4964 controls of European ancestry with no psychiatric disease history. This deletion was located at 10q22, and encompassed 14 genes, including ANXA7, ZMYND17, PPP3CB and CAMK2G. We validated this CNV as de novo, and accurate breakpoint determination showed that it is smaller than predicted by CNV identification algorithms, including only part of CAMK2G. We found that a 39 nucleotide addition occurred with the deletion, a mutational mechanism previously observed in other CNVs. Expression analysis of ANXA7, ZMYND17 and PPP3CB in this patient, in comparison with controls, is ongoing. Previous studies identified a genetic association of the ANXA7, PPP3CB and ZMYND17 region with schizophrenia, and significant expression alterations in schizophrenic patients. ANXA7 encodes Annexin7, involved in membrane fusion; interestingly, CNVs in other Annexin genes (ANXA1) have been found in ASD. PPP3CB plays an important role in synaptic plasticity, learning and memory. ZMYND17 has no known function. Our results suggest that alterations in these genes may be risk factors co-observed in autism and schizophrenia. Additional genetic and functional studies may lead to a better understanding of the common pathways between these neuropsychiatric disorders.
- CNV Characterization, Inheritance and Phenotypic Correlations in Families With AutismPublication . C. Conceição, Inês; Correia, Catarina; Oliveira, Bárbara; M. Rama, Maria; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, Frederico; Oliveira, Guiomar; M. Vicente, AstridAutism 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.
- Detection of mpox using polymerase chain reaction from the skin and oropharynx over the course of infection: A prospective studyPublication . Correia, Catarina; Alpalhão, M,; de Sousa, D,; Vieitez-Frade, J.; Pelerito, Ana; Cordeiro, Rita; Lopes de Carvalho, Isabel; Núncio, MS; Ferreira, J,; Filipe, P.To the Editor: Since early May 2022, 86,746 mpox virus (MPV) infections have been reported worldwide.1,2 However, its in vivo viral kinetics and infectivity remain unclear.3 We conducted a prospective observational study to determine how long MPV remains detectable in skin lesions and the oropharynx. (...)
- Human immunodeficiency virus infection may be a contributing factor to monkeypox infection: Analysis of a 42-case seriesPublication . Alpalhão, Miguel; Sousa, Diogo; Frade, Joana Vieitez; Patrocínio, João; Garrido, Pedro Miguel; Correia, Catarina; Brazão, Cláudia; Mancha, Dora; Núncio, Maria Sofia; Carvalho, Isabel Lopes; Pelerito, Ana; Borrego, Maria José; Filipe, PauloTo the Editor: An outbreak of monkeypox has emerged, and more than 13,000 cases have already been confirmed worldwide. In our department, we have 42 confirmed cases so far. All of them are cisgender males presenting with lesions in the genital, perianal, or perioral areas (Fig 1). Interestingly, we observe a disproportionate number of individuals living with the human immunodeficiency virus (HIV). Below, we present a retrospective analysis of our confirmed cases with their clinical and epidemiological characteristics (Table I). Differences between groups were analyzed using the Mann–Whitney U test and the t-test for discrete variables according to distribution. Independence between categorical variables was assessed with Fisher's exact test. All tests were performed for a confidence level of 95% in SPSS 22 (IBM Statistics) [...].
- Novel Autism Spectrum Disorder (ASD) Risk Genes identified in Genome-Wide Association Studies (GWAS) through Protein Interaction Network analysisPublication . Vicente, A.M.; Correia, Catarina; Conceição, Inês; Kwiatkowska, Katarzyna; Rodrigues, Catarina; Marques, Ana Rita; Oliveira, GuiomarASD is a common disorder with heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have proven more difficult to identify. The current GWAS data is consistent with the concept that common variant risk effects in ASD are too small to be detected with single SNP analysis. To uncover these variants from within the statistical “noise” in GWAS, new analysis strategies are needed. Disease-causing genes are expected to be functionally related, and therefore the proximity between gene products in a protein-protein interaction network can be used to distinguish relevant from spurious findings in GWAS.
- Pharmacogenetics of risperidone in AutismPublication . Correia, Catarina
- Phenotypic categorization of putative pathogenic CNVs in a population of Autism Spectrum Disorder patientsPublication . Conceição, Inês C.; Correia, Catarina; Oliveira, Bárbara; Rama, Maria M.; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, Frederico; Oliveira, Guiomar; Vicente, A.M.
- Redes de interação proteica revelam fatores de risco associados à perturbação do espetro do autismoPublication . Correia, Catarina; Oliveira, Guiomar; Vicente, A.M.Objetivo: No presente estudo foi colocada a hipótese de que fatores de risco comuns para a PEA convergem em vias fisiológicas específicas, e cumulativamente levam ao aparecimento de sintomas (6). Para identificar estas vias fisiológicas foi desenvolvido um método de análise de redes de interação proteína-proteína (protein-protein interaction, PPI), o qual envolve a sobreposição dos resultados de associação genómica obtidos em GWAS com redes de interação proteica previamente definidas. Esta abordagem pretende assim capturar informação de relevância biológica mesmo nos resultados negativos dos estudos de associação genómicos, e definir uma rede de interações proteicas (PPI) específica para a PEA.