Banca de DEFESA: Bianca Arcaro Topázio

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
STUDENT : Bianca Arcaro Topázio
DATE: 03/10/2025
TIME: 14:00
LOCAL: Laboratório de Genética da Faculdade de Medicina
TITLE:

“Contribution of Chromosomal Microarray Analysis and Exome Sequencing to the Genetic Diagnosis of Intellectual Disability in Female Patients”

KEY WORDS:

"intellectual disability, chromosomal microarray analysis, exome sequencing, copy number variants, female patients, genetic diagnosis”

PAGES: 100
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

“Introduction: Intellectual disability (ID) is a neurodevelopmental disorder with a highly heterogeneous etiology, often associated with genetic alterations. Although several studies have addressed male patients, data on the genetic causes of ID in girls are still limited. Objective: This study aimed to investigate the genetic basis of ID in female patients through Chromosomal Microarray Analysis (CMA) and Whole Exome Sequencing (WES), seeking to identify pathogenic variants and contribute to the understanding of ID in girls. Methods: One hundred female patients diagnosed with syndromic or nonsyndromic ID and normal karyotype were selected. CMA was performed in all patients, while WES was applied to 24 of them, whose previous results were inconclusive. The detected variants were classified according to the ACMG guidelines. Results: CMA identified pathogenic or likely pathogenic variants in 24% of patients. WES detected relevant variants in 37.5% of patients analyzed, including pathogenic and likely pathogenic variants, increasing the overall elucidation rate of the cause of ID in the study to 32%. New genomic regions of interest were described, especially involving the X chromosome, reinforcing their relevance in cases of ID in girls. Conclusion: The combined use of CMA and WES significantly increases the diagnostic yield in female patients with ID, highlighting the importance of integrated genomic approaches. This study also highlights the need for further research focused on ID in girls, a population still underrepresented in the literature. Early genetic diagnosis allows for better clinical management, genetic counseling, and psychosocial support, in addition to contributing to the improvement of genomic databases and scientific knowledge.”

COMMITTEE MEMBERS:
Interna - 2295825 - ANA CAROLINA ACEVEDO POPPE
Externa à Instituição - BEATRIZ RIBEIRO VERSIANI - HUB
Externa à Instituição - Gabriela Corassa Rodrigues da Cunha - OUTROS
Presidente - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externa à Instituição - LIA MENEZES FORMIGLI - SARAH