Banca de QUALIFICAÇÃO: YORINDEL JULIANA CARDOZO AMAYA

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
STUDENT : YORINDEL JULIANA CARDOZO AMAYA
DATE: 18/08/2022
TIME: 14:00
LOCAL: A Definir
TITLE:

CLINICAL AND GENETIC EVALUATION OF DENTAL ABNORMALITIES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA IN THE HOSPITAL UNIVERSITÁRIO DE BRASÍLIA (HUB)

KEY WORDS:

Osteogenesis Imperfecta, Tooth agenesis, Dentinogenesis Imperfecta, Tooth Abnormalities, Genetics, NGS

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

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous set of skeletal dysplasias. Studies have shown that the prevalence of tooth agenesis in patients with OI is increased in relation to the general population, but the etiology in these patients is not clearly established. The aim of the study was to identify the genetic etiology in 14 patients with OI, with and without tooth agenesis, followed up at the Oral Health Unit and treated with disodium pamidronate at the Pediatric Endocrinology Service of the University Hospital of Brasília (HuB). DNA extraction was performed using the salting out method, exome sequencing and data analysis using Varstation® by Varsomics. Six heterozygous pathogenic variants were identified in the COL1A1 and COL1A2 genes in 7 patients. In 5 patients, 4 homozygous pathogenic variants were identified, 2 in the CRTAP gene, 1 in the P3H1 gene and 1 in the SERPINF1 gene. In 2 patients, no pathogenic variants were identified in the genes associated with OI. Of the 8 patients with OI and tooth agenesis, no pathogenic variant was identified in genes associated with tooth agenesis or tooth development. The results suggest that tooth agenesis results from defects in Type I collagen. However, studies with larger cohorts are needed to better understand the etiology of tooth agenesis in these patients. The adverse effect of disodium pamidronate treatment on the dental development of patients with OI cannot be excluded.”

BANKING MEMBERS:
Presidente - 2295825 - ANA CAROLINA ACEVEDO POPPE
Interno - 3437282 - ANDRE FERREIRA LEITE
Interno - 1880131 - GUILHERME MARTINS GELFUSO
Interna - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externo à Instituição - PAULO MARCIO YAMAGUTI - HUB