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J Am Dent Assoc. 2006 Jun;137(6):743-52.

Gene discovery for dental anomalies: a primer for the dental professional.

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Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.



Thousands of inherited human disorders have been catalogued to date, but the underlying genetic causes of less than 20 percent of those disorders have been discovered.


The completion of the Human Genome Project (HGP) has made available the DNA sequence of all 24 human chromosomes, thereby allowing the localization of all human genes and, ultimately, determination of their function. Disease gene discovery is being expedited greatly by the data from the HGP, thereby paving the way for determination of the genetic etiology of most of these disorders.


While most dental anomalies can severely affect patients' quality of life, they are not fatal, which makes multigenerational families with these disorders available for study. These families are invaluable for genetic studies. Despite this fact, the discovery of genes underlying non-syndromic dental anomalies has lagged behind that for anomalies affecting other organ systems. The authors present an overview of the methodologies of disease gene identification using hypodontia, which is one of the most common anomalies of the dentition, to illustrate the application of these principles.


An understanding of the advances in human genetics should inspire the practicing dental professional to ascertain whether a dental anomaly is inherited and, if so, work with a human geneticist to identify its underlying genetic mechanism.

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