- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00026026
Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders
The congenital absence of teeth, commonly referred to as hypodontia or tooth agenesis, is a common developmental anomaly of human dentition that affects approximately 20% of the population. Although new genetic and molecular approaches in humans and mice have increased our understanding of the molecules that control tooth patterning (number, position, shape and size), the precise nature of the genes involved in hypodontia in humans is poorly understood. Hence, understanding the molecular basis for missing teeth is an issue of paramount importance that is both timely and significant to the practice of dentistry. So far, only two genes have been associated with non-syndromic familial tooth agenesis: MSX1 and PAX9. Substitution mutations in the homeodomain region of MSX1 were linked to premolar agenesis while an insertion mutation in the paired box domain of PAX9 was shown to be responsible for molar oligodontia.
The long-term goals of this research are to elucidate the molecular pathology of human tooth agenesis, in particular, to evaluate whether genes other than MSX1 and PAX9 (locus heterogeneity) are involved. Alternatively, as in the case of MSX1, it will be interesting to know whether allelic variations, different mutations in these genes, are associated with tooth agenesis. We propose to study a potentially large kindred that report the developmental absence of several posterior teeth. The fundamental hypothesis to be tested states that the gene responsible for the congenital absence of molar teeth in this kindred is a critical element in the genesis of molars. The specific goals are to perform linkage analysis followed by direct sequencing of PCR products to identify the gene and to characterize the nature of the underlying defect. Identifying the underlying gene defect in this family affected by tooth agenesis will add new knowledge to our understanding of the pathogenesis of this defect and will provide the basis for future studies.
Study Overview
Status
Conditions
Study Type
Contacts and Locations
Study Locations
-
-
North Carolina
-
Chapel Hill, North Carolina, United States, 27599
- Recruiting
- University of North Carolina at Chapel Hill
-
Contact:
- Sylvia A Frazier-Bowers, DDS, PhD
- Phone Number: 919-966-9255
- Email: sylvia_frazier@dentistry.unc.edu
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- Patients affected with non-syndromic tooth agenesis and non-affected family members
Study Plan
How is the study designed?
Design Details
- Time Perspectives: Cross-Sectional
Collaborators and Investigators
Study record dates
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- NCRR-M01RR02558-0173
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Anodontia
-
Cairo UniversityUnknownAnodontia of Permanent Dentition
-
Cairo UniversityUnknown
-
Mansoura UniversityActive, not recruiting
-
Marmara UniversityCompleted
-
University Medical Center GroningenCompleted
-
Prof. Abdul Mueed ZaighamCompleted
-
University of MinnesotaWithdrawnMissing TeethUnited States
-
Università degli Studi di SassariCompleted
-
Ain Shams UniversityRecruitingComparison Between Conventional and CAD/CAM Complete Dentures Designed Based on Neutral Zone ConceptMissing Teeth | DenturesEgypt