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Copy number variation in genome of patients with obsessive-compulsive disorder and autism spectrum disorder with restricted interests and repetitive behaviors

Grant number: 11/14658-2
Support type:Regular Research Grants
Duration: July 01, 2012 - June 30, 2015
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Helena Paula Brentani
Grantee:Helena Paula Brentani
Home Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

This study is part of a broader line of research being developed in the Program for Obsessive-compulsive Spectrum Disorders of the Institute of Psychiatry, Hospital das Clínicas, School of Medicine, University of São Paulo in collaboration with Program for Autism Spectrum Disorder of the same center. Along the phenotypic characterization studies and clinical trials developed by these researches group, the biological bases of the obsessive-compulsive symptoms and autism symptoms are also investigated. Specifically in this study, we aim to assess a type of genomic variation known as copy number of DNA sequences or CNVs. Given that obsessive-compulsive disorder and autism should be regarded as a neurodevelopmental disorder and that many CNVs have been associated with other psychiatric disorders related to neurodevelopment, we hypothesized that the CNVs, chromosomes and biological pathways found may be the same and are associated with the processes involved in this neurodevelopment. Our main goal is to verify if the frequency of CNVs in the genome is different in obsessive-compulsive disorder patients compared with autism patients and health controls (not fulfilling diagnostic criteria for mental disorders). In addition, to establish the biological pathways possibly involved with findings related to specific CNVs, we also investigated the distribution of CNVs along the chromosomes and which genes are associated with them. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
TAHIRA, ANA CAROLINA; BARBOSA, ANDRE ROCHA; FELTRIN, ARTHUR SANT'ANNA; GASTALDI, VINICIUS DAGUANO; CALEGARI DE TOLEDO, VICTOR HUGO; DE CARVALHO PEREIRA, JOSE GERALDO; GARCIA LISBOA, BIANCA CRISTINA; DE SOUZA REIS, VIVIANE NERI; FEIO DOS SANTOS, ANA CECILIA; MASCHIETTO, MARIANA; BRENTANI, HELENA. Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, v. 180, n. 6, SI, p. 390-414, SEP 2019. Web of Science Citations: 1.
DE SOUZA REIS, VIVIANE NERI; KITAJIMA, JOAO PAULO; TAHIRA, ANA CAROLINA; FEIO-DOS-SANTOS, CECILLIA; FOCK, RODRIGO AMBROSIO; GARCIA LISBOA, BIANCA CRISTINA; SIMOES, SERGIO NERY; KREPISCHI, ANA C. V.; ROSENBERG, CARLA; LOURENCO, NAILA CRISTINA; PASSOS-BUENO, MARIA RITA; BRENTANI, HELENA. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. PLoS One, v. 12, n. 1 JAN 24 2017. Web of Science Citations: 0.
CAPPI, C.; BRENTANI, H.; LIMA, L.; SANDERS, S. J.; ZAI, G.; DINIZ, B. J.; REIS, V. N. S.; HOUNIE, A. G.; CONCEICAO DO ROSARIO, M.; MARIANI, D.; REQUENA, G. L.; PUGA, R.; SOUZA-DURAN, F. L.; SHAVITT, R. G.; PAULS, D. L.; MIGUEL, E. C.; FERNANDEZ, T. V. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. TRANSLATIONAL PSYCHIATRY, v. 6, MAR 29 2016. Web of Science Citations: 11.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.