Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
Not Applicable
- Conditions
- Dentin AnomaliesAmelogenesis ImperfectaDentinogenesis Imperfecta
- Interventions
- Biological: Blood sample
- Registration Number
- NCT03810859
- Lead Sponsor
- Assistance Publique - Hôpitaux de Paris
- Brief Summary
ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 14
Inclusion Criteria
- clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other dentin anomaly with no other signs or symptoms ( familial or isolated)
- negative results after targeted NGS strategy for molecular diagnosis
Exclusion Criteria
- absence of positive clinical diagnosis
- Diagnosis of syndromic disease
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description All patients Blood sample Blood sample
- Primary Outcome Measures
Name Time Method Genome sequencing After one day Pathogenic variants identification and qualification
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Hospital Cochin
🇫🇷Paris, France