Investigation of gene variants in patients with diagnostic hypothesis of microdeletion/microduplication and absence of genomic imbalances

• Grant number: 23/17844-9
• Support Opportunities: Scholarships in Brazil - Master
• Start date: May 01, 2024
• End date: November 30, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Maria Isabel de Souza Aranha Melaragno
• Grantee: Henrique Garcia Silveira
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype, AP.TEM

Abstract

Syndromes resulting from copy number variations (CNVs) are characterized by the presence of microdeletions or microduplications of genomic segments. They are detected by cytogenomic techniques, such as MLPA and genomic array, which verify the presence of genomic imbalances, associated with different syndromes. Some individuals, despite having the main clinical signs of syndromes related to CNVs, may show normal cytogenomic results, remaining undiagnosed. Therefore, in the project, patients with a diagnostic hypothesis of microdeletions or microduplications that did not present the genomic imbalance, when undergoing MLPA and/or genomic array tests, will be studied. Due to the negative results of the molecular tests carried out, the investigation of the patients will be expanded with the use of whole exome sequencing (WES), in order to find gene variants in other regions of the genome that are associated with the patient´s phenotype. In this way, the project in question will contribute to a better understanding of the human genome and its changes, which are of high scientific and clinical interest, as it allows for better prognosis and monitoring of patients and genetic counseling for the family.