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Investigation of the copy number variations and complex rearrangements in patients with congenital anomalies and development delay by OLIGO-ARRAY

Grant number: 12/25247-6
Support type:Scholarships abroad - Research Internship - Doctorate
Effective date (Start): February 27, 2013
Effective date (End): June 26, 2013
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Chong Ae Kim
Grantee:Roberta Lelis Dutra
Supervisor abroad: Maria Joana Lima Barbosa de Melo
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Local de pesquisa : Universidade de Coimbra (UC), Portugal  

Abstract

The genomic imbalances are the most common cause of miscarriage, anomalies congenital and developmental delay, however the etiology of these imbalances are not well understood, making difficult the counseling genetics and the treatment in most cases. In fact, with the improvement of new cytogenomics diagnostic techniques, such as the MLPA (Multiplex Ligation-dependent Probe Amplification) and the array techniques showed that changes in the normal gene copy numbers influence the pathogenic variability of phenotypes in different syndromes. However, these methods are specific to a limited number of genomic regions, such as in most common of the microdeletion and microduplications syndromes and subtelomeric regions. While the genomic screening technique using the method of array comparative genomic hybridization (array-CGH) enables the analysis of thousands of genomic targets simultaneously.Thus, the present study aims at investigating changes in gene copy number (CNV) by array technique in patients with congenital anomalies and developmental delay that were previously tried and tested with the implementation of the MLPA technique.In order to do this we propose the development of a new MLPA kit, to verify the genes involved in the formation of chromosomal instability. Since these syndromes have complex rearrangements in common, the altered genes could be responsible for these rare phenotypes.The investigation of CNVs related to the instability will allow a better understanding of the etiology of chromosomal rearrangements and genotype-phenotype correlation. (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)
CERONI, J. R. M.; DUTRA, R. L.; HONJO, R. S.; LLERENA, JR., J. C.; ACOSTA, A. X.; MEDEIROS, P. F. V.; GALERA, M. F.; ZANARDO, E. A.; PIAZZON, F. B.; DIAS, A. T.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; MADIA, F. A. R.; BERTOLA, D. R.; DE MELO, J. B.; KULIKOWSKI, L. D.; KIM, C. A. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. SCIENTIFIC REPORTS, v. 8, SEP 6 2018. Web of Science Citations: 0.

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