Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was  Recruiting
Sponsor:
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00026026
First received: November 6, 2001
Last updated: June 23, 2005
Last verified: December 2003

November 6, 2001
June 23, 2005
Not Provided
Not Provided
Not Provided
Not Provided
Complete list of historical versions of study NCT00026026 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders
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.

Not Provided
Observational
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Not Provided
Not Provided
Not Provided
Not Provided
Anodontia
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
Not Provided
Not Provided
Not Provided
  • Patients affected with non-syndromic tooth agenesis and non-affected family members
Both
5 Years to 80 Years
Yes
United States
 
NCT00026026
NCRR-M01RR02558-0173
Not Provided
Not Provided
National Center for Research Resources (NCRR)
Not Provided
Not Provided
National Center for Research Resources (NCRR)
December 2003

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP