Abstract
We identified a frameshift mutation in the paired domain of PAX9 following genome-wide analysis of a family segregating autosomal dominant oligodontia. Affected members have normal primary dentition but lacked most permanent molars.
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Acknowledgements
We thank the family for their cooperation; C. Egger for PAX9 genomic sequence; and D. Nguyen and P. Mai in the Kleberg Genotyping Center. This work was supported in part by a grant from the Kleberg Foundation, Basic Research Grant No. 1-FY98-0119 from the March of Dimes Birth Defects Foundation (P.I.P.), and NIH grants EY00375 (D.W.S.), DE11663 and DE13368 (R.D.S.).
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Stockton, D., Das, P., Goldenberg, M. et al. Mutation of PAX9 is associated with oligodontia. Nat Genet 24, 18–19 (2000). https://doi.org/10.1038/71634
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DOI: https://doi.org/10.1038/71634
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