Banca de DEFESA: REYNER SANTOS DE OLIVEIRA

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : REYNER SANTOS DE OLIVEIRA
DATE: 10/07/2025
TIME: 09:00
LOCAL: Laboratório de Genética - Faculdade de Medicina, Universidade de Brasília
TITLE:

GENETIC ETIOLOGY OF SYNDROMIC INTELLECTUAL DISABILITY IN 46, XY INDIVIDUALS USING EXOME SEQUENCING

KEY WORDS:

“Intellectual disability, whole-exome sequencing, molecular diagnosis, medical genetics.”

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

“Intellectual disability (ID) affects approximately 1%-3% of the global population, regardless of ethnicity or socioeconomic status, and represents a significant public health challenge. It is a highly heterogeneous condition, both in terms of etiology and clinical presentation, characterized by substantial impairments in intellectual functioning and adaptive behavior. Advances in health care, sanitation, and nutrition have heightened interest in understanding the genetic basis of ID, which accounts for an estimated 25%–50% of cases. However, despite recent progress in variant identification and analysis, the majority of individuals with ID still lack a definitive molecular diagnosis. In this context, the present study aimed to investigate the genetic etiology of ID in a cohort of 16 individuals with a 46, XY karyotype, all presenting with syndromic ID, who were selected from the Ambulatório de Genética Clínica at the Hospital Universitário de Brasília. Whole-exome sequencing (WES) was employed as the primary diagnostic approach, yielding a diagnostic success rate of 75.0% (12/16). For individuals in whom exome analysis did not identify causative variants, potentially relevant candidate variants were proposed. This study aligns with global efforts to employ next-generation sequencing as a diagnostic tool for genetic conditions. Over the years, this set of techniques has become increasingly robust, not only enhancing diagnostic accuracy but also enabling the re-analysis of previously inconclusive results. ”

COMMITTEE MEMBERS:
Externa à Instituição - IRENE PLAZA PINTO - UFG
Interna - 2329402 - ANGELICA AMORIM AMATO
Presidente - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externo ao Programa - ***.731.541-** - RAPHAEL SEVERINO BONADIO - PADOVA