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Genotype and malocclusion in patients with osteogenesis imperfecta
Z Jabbour1, A Al-Khateeb1, H Eimar1
1Faculty of Dentistry, McGill University, Montreal, QC, Canada.
Orthodontics & Craniofacial Research
|February 2, 2018
Summary
The type of gene mutation in osteogenesis imperfecta (OI) influences malocclusion severity. COL1A2 mutations are linked to more severe dental issues compared to COL1A1 mutations in OI patients.
Area of Science:
- Genetics
- Oral Health
- Medical Research
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones.
- Malocclusion, a common dental issue, can significantly impact quality of life.
- The relationship between specific OI genotypes and malocclusion severity requires further investigation.
Purpose of the Study:
- To explore the association between genetic mutations and the severity of malocclusion in patients with osteogenesis imperfecta.
- To compare malocclusion severity across different OI genotypes.
Main Methods:
- A cross-sectional study involving 49 patients (ages 5-19) with various OI types.
- Genetic sequence analysis of COL1A1, COL1A2, and other OI-related genes.
- Malocclusion severity assessed using the Peer Assessment Rating (PAR) index.
Main Results:
- Patients with COL1A2 mutations exhibited significantly higher PAR scores for overall malocclusion, anterior cross-bite, anterior open bite, and anteroposterior buccal occlusion compared to those with COL1A1 mutations.
- Males with COL1A2 mutations showed higher total PAR scores than females.
- OI type V (IFITM5 mutations) and OI type VI (SERPINF1 mutations) presented unique patterns in specific malocclusion parameters.
Conclusions:
- The specific disease-causing mutation in osteogenesis imperfecta plays a role in determining the severity of malocclusion.
- Genetic factors are critical in understanding the spectrum of dental anomalies in OI patients.
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