CAIO ROBLEDO D'ANGIOLI COSTA QUAIO

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  • article 0 Citação(ões) na Scopus
    Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
    (2023) MCGEE, Stacey R.; RAJAMANICKAM, Shivakumar; ADHIKARI, Sandeep; FALAYI, Oluwatosin C.; WILSON, Theresa A.; SHAYOTA, Brian J.; COLEMAN, Jessica A. Cooley; SKINNER, Cindy; CAYLOR, Raymond C.; STEVENSON, Roger E.; QUAIO, Caio Robledo D' Angioli Costa; WILKE, Berenice Cunha; BAIN, Jennifer M.; ANYANE-YEBOA, Kwame; BROWN, Kaitlyn; GREALLY, John M.; BIJLSMA, Emilia K.; RUIVENKAMP, Claudia A. L.; POLITI, Keren; ARBOGAST, Lydia A.; COLLARD, Michael W.; I, Jodi Huggenvik; ELSEA, Sarah H.; JENSIK, Philip J.
    De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND). RNA-sequencing using hippocampal RNA from mice with conditional deletion of Deaf1 in the central nervous system indicate that loss of Deaf1 activity results in the altered expression of genes involved in neuronal function, dendritic spine maintenance, development, and activity, with reduced dendritic spines in hippocampal regions. Since DEAF1 is not a dosage-sensitive gene, we assessed the dominant negative activity of previously identified de novo variants and a heritable recessive DEAF1 variant on selected DEAF1-regulated genes in 2 different cell models. While no altered gene expression was observed in cells over-expressing the recessive heritable variant, the gene expression profiles of cells over-expressing de novo variants resulted in similar gene expression changes as observed in CRISPR-Cas9-mediated DEAF1-deleted cells. Altered expression of DEAF1-regulated genes was rescued by exogenous expression of WT-DEAF1 but not by de novo variants in cells lacking endogenous DEAF1. De novo heterozygous variants within the DBD of DEAF1 were identified in 10 individuals with a phenotypic spectrum including autism spectrum disorder, developmental delays, sleep disturbance, high pain tolerance, and mild dysmorphic features. Functional assays demonstrate these variants alter DEAF1 transcriptional activity. Taken together, this study expands the clinical phenotypic spectrum of individuals with DAND, furthers our understanding of potential roles of DEAF1 on neuronal function, and demonstrates dominant negative activity of identified de novo variants.
  • conferenceObject
    Genomic study of non-syndromic hearing loss in unaffected individuals: frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2097 genomes
    (2023) QUAIO, Caio Robledo; COELHO, Antonio Victor Campos; MOURA, Livia Maria Silva; GUEDES, Rafael Lucas Muniz; CHEN, Kelin; CERONI, Jose Ricardo Magliocco; MINILLO, Renata Moldenhauer; CARACIOLO, Marcel Pinheiro; REIS, Rodrigo de Souza; CERVATO, Murilo; ALMEIDA, Tatiana Ferreira de; OLIVEIRA FILHO, Joao Bosco de
  • article 2 Citação(ões) na Scopus
    Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
    (2021) QUAIO, Caio Robledo D'Angioli Costa; OBANDO, Maria Jose Rivadeneira; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; CHUNG, Christine Hsiaoyun; MOREIRA, Caroline Monaco; NOVO FILHO, Gil Monteiro; SACRAMENTO-BOBOTIS, Patricia Rossi; PENNA, Michele Groenner; SOUZA, Rafaela Rogerio Floriano de; CINTRA, Vivian Pedigone; CARNAVALLI, Juliana Emilia Prior; SILVA, Rafael Alves da; SANTOS, Monize Nakamoto Provisor; PAIXAO, Daniele; BARATELA, Wagner Antonio da Rosa; OLIVATI, Caroline; SPOLADOR, Gustavo Marquezani; PINTAO, Maria Carolina; FORNARI, Alexandre Ricardo dos Santos; BURGER, Matheus; RAMALHO, Rodrigo Fernandes; PEREIRA, Otavio Jose Eulalio; FERREIRA, Elisa Napolitano E; MITNE-NETO, Miguel; KIM, Chong Ae
    Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using data from a cohort of patients with rare genetic diseases diagnosed with exome sequencing (ES). For this purpose, we simulated a comparison between different targeted gene panels and ES: the list of genes harboring clinically relevant variants from 158 patients was used to estimate the theoretical rate of diagnoses missed by NGS panels from 53 different NGS panels from eight different laboratories. Panels presented a mean rate of missed diagnoses of 64% (range 14%-100%) compared to ES, representing an average predicted sensitivity of 36%. Metabolic abnormalities represented the group with highest mean of missed diagnoses (86%), while seizure represented the group with lowest mean (46%). Focused gene panels are restricted in covering select sets of genes implicated in specific diseases and they may miss molecular diagnoses of rare diseases compared to ES. However, their role in genetic diagnosis remains important especially for well-known genetic diseases with established genetic locus heterogeneity.
  • article 0 Citação(ões) na Scopus
    Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
    (2022) QUAIO, Caio Robledo D' Angioli Costa; COELHO, Antonio Victor Campos; MOURA, Livia Maria Silva; GUEDES, Rafael Lucas Muniz; CHEN, Kelin; CERONI, Jose Ricardo Magliocco; MINILLO, Renata Moldenhauer; CARACIOLO, Marcel Pinheiro; REIS, Rodrigo de Souza; AZEVEDO, Bruna Mascaro Cordeiro de; NOBREGA, Maria Soares; TEIXEIRA, Anne Caroline Barbosa; LIMA, Matheus Martinelli; MOTA, Thamara Rayssa da; MATTA, Marina Cadena da; COLICHIO, Gabriela Borges Cherulli; RONCALHO, Aline Lulho; FERREIRA, Ana Flavia Martinho; CAMPILONGO, Gabriela Pereira; PERRONE, Eduardo; VIRMOND, Luiza do Amaral; MORENO, Carolina Araujo; PROTA, Joana Rosa Marques; FRANCA, Marina de; CERVATO, Murilo Castro; ALMEIDA, Tatiana Ferreira de; OLIVEIRA FILHO, Joao Bosco de
    Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pathogenic variants associated with nonsyndromic hearing loss (NSHL). We found relevant frequencies of individuals harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 heterozygotes (2.58%) for copy-number variants (CNV), and four homozygotes (0.19%) for sequence variants. The top five most frequent genes and their corresponding combined allelic frequencies (AF) were GJB2 (AF = 1.57%), STRC (AF = 1%), OTOA (AF = 0.69%), TMPRSS3 (AF = 0.41%), and OTOF (AF = 0.29%). The most frequent sequence variant was GJB2:c.35del (AF = 0.72%), followed by OTOA:p. (Glu787Ter) (AF = 0.61%), while the most recurrent CNV was a microdeletion of 57.9 kb involving the STRC gene (AF = 0.91%). An important fraction of these individuals (n = 104; 4.96%) presented variants associated with autosomal dominant forms of NSHL, which may imply the development of some hearing impairment in the future. Using data from the heterozygous individuals for recessive forms and the Hardy-Weinberg equation, we estimated the population frequency of affected individuals with autosomal recessive NSHL to be 1:2,222. Considering that the overall prevalence of HL in adults ranges from 4-15% worldwide, our data indicate that an important fraction of this condition may be associated with a monogenic origin and dominant inheritance.