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Joan Stephenson, PhD

JAMA. 2000;283:875.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Although the failure of some permanent teeth to develop is a common genetic anomaly, an orthodontic resident from the University of Texas–Houston Dental Branch, heeding a professor's directive to look for patterns of missing teeth in patients, found a 12-year-old boy missing 14 of his pearly whites. This astute clinical observation set in motion a research effort by investigators at the University of Texas–Houston and Baylor College of Medicine and funded by the National Institute of Dental and Craniofacial Research that ultimately led to the cause: a mutation in a gene called PAX9 (Nat Genet. 2000;24:18-19).

Further detective work revealed that the boy's father and two brothers also lacked multiple teeth, and that 21 of 43 members spanning three generations lacked all 12 molars and, in some cases, other permanent teeth as well. All affected family members had normal primary dentition (baby teeth). Genetic analysis . . . [Full Text of this Article]

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