Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00026026
Status:
UNKNOWN
Last Update Posted:
2005-06-24
First Post:
2001-11-06
Brief Title:
Linkage and Identification of a Candidate Genes for Tooth Disorders
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
Linkage and Identification of a Candidate Genes for Tooth Disorders
Status:
UNKNOWN
Status Verified Date:
2003-12
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?: