Amelogenesis Imperfecta
Conditions
Brief summary
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.
Interventions
GENETICSalivary and blood sampling, as part of routine care. Collection of exfoliated teeth.
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Natural history of Amelogenesis Imperfecta | at day of enrollment | Familial, medical, dental history |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Phenotype of Amelogenesis Imperfecta | at day of enrollment | Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies |
Other
| Measure | Time frame | Description |
|---|---|---|
| Genetic Bases of Amelogenesis Imperfecta | within 3 years after enrollment | Genetic analysis |
| Ultrastructure of teeth hard tissues | within 3 years after enrollment | Ultrastructure analysis of teeth hard tissues |
Countries
France
Outcome results
None listed