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Gene mutation results in missing teeth

Approximately 20 percent of the population are born unable to develop a full set of teeth. Although the underlying causes are mostly unknown, members of a Houston, Texas family who lack mainly their first and second molars were found to have a mutation in a gene called PAX9. This is the first report of a human disorder linked to PAX9, one of a family of "master" genes that help determine body shape and organ formation during embryological development. This discovery is an important contribution to understanding the genetics of human tooth development and brings scientists a step closer to someday replicating the process.

Scientists at the University of Texas-Houston Dental Branch and the Baylor College of Medicine discovered the PAX9 mutation in a family in which congenitally absent molars were documented in members of three generations. The finding, published in the January issue of Nature Genetics, was supported by the National Institute of Dental and Craniofacial Research.

The discovery of the PAX9 mutation began with Dr. Rena D'Souza, an associate professor of orthodontics, directing her students to look for patterns of missing teeth in their patients. One of these students, co-author Monica Goldenberg, observed a 13-year-old boy missing 14 permanent teeth. Further investigation revealed that the father and two brothers had a similar condition, and out of 43 family members, 21 were determined to have congenitally missing molars.

"This is an example of an astute clinical observation unveiling a classic pattern of autosomal dominant inheritance, where offspring of both sexes have a 50-50 chance of inheriting a mutated gene and the disorder associated with it," said Dr. D'Souza. "From that point it was a matter of applying the techniques of molecular epidemiology and DNA analysis to identify the gene." By following the inheritance pattern of known DNA markers in affected family members, D'Souza and the Baylor collaborators tracked the r
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Contact: Wayne Little
wayne.little@nih.gov
301-594-7560
NIH/National Institute of Dental and Craniofacial Research
29-Dec-1999


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