Copy Number Variation in Verbal and Non-verbal patients with Autism Spectrum Disorders

• Grant number: 11/04956-6
• Support Opportunities: Scholarships in Brazil - Master
• Start date: March 01, 2012
• End date: July 31, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Helena Paula Brentani
• Grantee: Viviane Neri de Souza Reis
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Twin and family studies have shown that autism spectrum disorders (ASD) are highly heritable (~ 92%), but its etiology is still unknown. This fact is due to ASD being a complex disorder , with heterogeneous phenotype and several genes involved in its etiology. Recently, both heritable and de novo copy number variations (CNVs) and point mutations (SNVs) were associated with ASD, suggesting new loci and candidate genes including those involved in neurodevelopment and language (SHANK3, CNTNAP2, CDH9 and CDH10). These studies, however, still have little replicability. An alternative to this lack of findings is to study structural changes of the genome in rare and common endophenotypes of ASD, ie, sub-components of measurable and inherited phenotype. Thus genetic studies associated with phenotypic traits, such as language, seems more promising for understanding the etiologic basis of ASD when compared with studies where complex phenotype may hinder the understanding of the genetic bases involved in ASD. This work will seek to determine whether there are rare and/or de novo CNVs and SNVs of ASD trios, in different subphenotypes related to language (verbal and nonverbal patients). The study intends to examine a possible association of these variations affecting genes and biological pathways involved in ASD, and will be conducted by exome sequencing technique on Illumina platform.

Scientific publications

(4)

(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; et al. 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. (14/00591-1, 14/10488-3, 15/06281-7, 11/14658-2, 14/00041-1, 11/04956-6)

FELTRIN, ARTHUR SANT'ANNA; TAHIRA, ANA CAROLINA; SIMOES, SERGIO NERY; BRENTANI, HELENA; MARTINS, JR., DAVID CORREA. Assessment of complementarity of WGCNA and NERI results for identification of modules associated to schizophrenia spectrum disorders. PLoS One, v. 14, n. 1, JAN 15 2019. (11/04956-6, 11/50761-2, 14/00041-1, 14/10488-3, 15/01587-0)

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; et al. 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. (11/04956-6, 11/14658-2)

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; et al. 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, p. 25-pg., 2019-09-01. (14/00591-1, 15/06281-7, 14/00041-1, 11/04956-6, 14/10488-3, 11/14658-2)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

REIS, Viviane Neri de Souza. New and rare variations in the genome of patients with autism spectrum disorders verbal and nonverbal. 2014. Master's Dissertation - Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD) São Paulo.