Study

Genetics of Disorders Affecting Tooth Structure, Number, Morphology and Eruption

Study ID Alternative Stable ID Type
phs001491 Parent-Offspring Trios

Study Description

The long-term objective of this research project is to discover the complete spectrum of genes that contribute to the etiologies of genetic disorders of the dentition. Inherited tooth defects can be isolated (the only symptom) or syndromic (having additional symptoms) and can be caused by mutations in many different genes. Clinically, it can be difficult to distinguish among the diverse forms. Making an accurate diagnosis would be greatly improved if reliable tests could identify the specific genetic defect that causes the disease in each case. Current technology can identify the numerous sequence variations throughout a patient's exome, but the disease-causing variation among them cannot be identified unless it is already on the list of genes that potentially cause the disease.

A diagnosis based upon the genetic defect that causes the disorder distinguishes between isolated and syndromic tooth defects. A precise diagnosis permits formulation of a more accurate prognosis, which informs treatment decisions. The benefits of accomplishing our aims are to 1) enable ... (Show More)

Archive Link Archive Accession
dbGaP phs001491

Who archives the data?

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