Banca de DEFESA: YORINDEL JULIANA CARDOZO AMAYA

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
STUDENT : YORINDEL JULIANA CARDOZO AMAYA
DATE: 26/08/2024
TIME: 14:00
LOCAL: Plataforma Virtual Google Meet - ACESSO https://meet.google.com/ezh-ybbd-mpu
TITLE:

CLINICAL AND GENETIC EVALUATION OF DENTAL ANOMALIES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA AT THE UNIVERSITY HOSPITAL OF BRASÍLIA

KEY WORDS:

Osteogenesis Imperfecta, Tooth Agenesis, Exoma, Taurodontism, unerupted teeth, Sodium Pamidronate.

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

Osteogenesis Imperfecta (OI) is a heterogeneous connective tissue disorder, most caused by pathogenic variants in genes encoding type I collagen. Clinically, OI is classified into four subtypes based on severity, and genetically, it has 22 subtypes depending on the gene harboring the causative variant. Among patients with OI seen at the Center for Rare Diseases Dental Care, 14 have not received a molecular diagnosis, which is essential for proper genetic counseling. The primary objective of this study was to identify causative variants in these OI patients. Exome sequencing was performed, and in 12 out of 14 patients, pathogenic variants were identified as heterozygosity in COL1A1 and COL1A2 genes, and homozygosity in P3H1, CRTAP and SERPINF1 genes. Five of the identified variants had not been previously reported in the literature. The main signs and symptoms include bone fragility and variable growth delay among individuals. Various craniofacial and dental manifestations have been described, including characteristic facial features and Dentinogenesis Imperfecta. Tooth agenesis (TA) occurs frequently in individuals with OI, although its etiology remains unclear. Some authors propose that TA may be a manifestation of OI, while others consider it a concurrent condition. The secondary objective was to identify causative variants associated with TA in genes expressed during dental development in OI patients. Samples from patients with both TA and OI who had undergone exome sequencing were analyzed. No genetic variants specifically causing TA were identified in the studied genes, suggesting that TA is indeed a manifestation of OI. Several studies have explored the relationship between the high frequency of dental anomalies in OI patients and treatment with antiresorptive treatment. Besides TA, taurodontia and delayed tooth eruption are other anomalies frequently observed in OI patients. The third objective was to assess the frequency of dental anomalies in clinically diagnosed OI patients. Panoramic radiographs of OI patients were compared with those of age- and sex-matched individuals without OI. TA was significantly more frequent in OI patients compared to non-OI individuals (p<0.05), especially in severe cases. Other dental anomalies did not show significant differences, more studies with larger samples are needed. Finally, the fourth objective was to investigate the association between TA frequency in OI patients, intravenous pamidronate treatment onset, and the number of doses administered. No significant difference was found between the groups (p>0.05), indicating that TA is not associated with pamidronate treatment in our patients.

COMMITTEE MEMBERS:
Interna - 2295825 - ANA CAROLINA ACEVEDO POPPE
Externa à Instituição - FABIANA TOLENTINO DE ALMEIDA MARQUES - UniAlberta
Interna - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externa à Instituição - LETÍCIA LOPES QUIRINO PANTOJA - OUTROS
Externa ao Programa - 1122542 - LILIAN MARLY DE PAULA - null