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[Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation]
1Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Stomatology, Xi'an 710032, China.
Mutations in the FAM83H gene can cause amelogenesis imperfecta (AI) and also lead to abnormal tooth eruption, particularly affecting canines and second molars. These eruption issues occur even without clear obstructions in the eruption path.
Area of Science:
- Genetics and Developmental Biology: Focuses on the role of the FAM83H gene in tooth development and eruption.
- Oral Health and Dentistry: Investigates the clinical manifestations of FAM83H mutations beyond enamel defects.
Context:
- Amelogenesis imperfecta (AI) is primarily linked to enamel formation defects caused by FAM83H gene mutations.
- Previous research has concentrated on the impact of FAM83H mutations on enamel mineralization.
- This study explores additional effects of FAM83H mutations on tooth eruption patterns.
Purpose:
- To analyze clinical cases of amelogenesis imperfecta (AI) associated with FAM83H mutations.
- To identify and characterize abnormal tooth eruption patterns in patients with FAM83H mutations.
- To determine if FAM83H mutations contribute to tooth eruption abnormalities independent of AI.
Summary:
- A systematic review of 45 papers identified 20 relevant studies involving 50 AI patients with FAM83H mutations.
- Abnormal tooth eruption was observed in 24% of patients (12/50), with 34 teeth affected.
- Most abnormal eruptions (85%) occurred without obstruction, including impacted (74%) and partially erupted (12%) teeth, with canines and second molars most frequently affected (38%).
Impact:
- This research expands the understanding of FAM83H gene's role in dental development.
- Identifies specific tooth eruption anomalies associated with FAM83H mutations.
- Highlights the potential for FAM83H mutations to cause both enamel defects and eruption disturbances, guiding clinical diagnosis and management.
