Amelogenesis Imperfecta

Study Overview
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Brief Summary
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Amelogenesis Imperfecta (AI) are a heterogeneous group of rare genetic diseases transmitted according to various mode of inheritance (X-linked, autosomal dominant, autosomal recessive) affecting the formation/mineralization of tooth enamel. These diseases exist in isolation with clinical manifestations limited to the oral cavity or may be associated to other symptoms in syndromes. Many different genes (AMELX, ENAM, ENAMELYSIN or MMP20, KLK4, DLX3, FAM83H, FAM20A WDR72…) coding for enamel matrix proteins, enamel matrix degrading proteins, proteins involved in hydroxyapatite formation and growth and mineralization processes have been discovered responsible for the clinical phenotypes (hypoplastic, hypomineralized, hypomature) encountered in AI. Genes involved in enamel formation but not yet identified in association with any form of AI include: AMELY, AMELOBLASTIN, TUFTELIN, AMELOTIN, A Pin protein, ODAM (Odontogenic ameloblast associated). In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI.

Official Title
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Clinical and Molecular Study of Amelogenesis Imperfecta

Conditions
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Amelogenesis Imperfecta

Intervention / Treatment
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* Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Patient presenting with AI New patient or patient already known in the center Child (in his primary dentition) or adult Man or woman Having signed a consent form or accepted to participate to the study Patient affiliated to social security Validation of the inclusion by the principal investigator looking at the patient file Exclusion criteria: Patient with acquired enamel defects Patient whose clinical diagnostic is not possible Patient whose clinical file does not contain teeth photos Patient who has not signed a consent form and accepted to participate to the study Patient who is not affiliated to social security. Non validation of the inclusion by the principal investigator looking at the patient file
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Amelogenesis Imperfecta<br>Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth | Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.<br> <br> |
| healthy family members<br>Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth | Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Natural history of Amelogenesis Imperfecta | Familial, medical, dental history | at day of enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Phenotype of Amelogenesis Imperfecta | Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies | at day of enrollment |