Genotype-phenotype correlations in non-syndromic tooth agenesispatients.

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Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. We determined the structural and functional consequences of these paired domain missense mutations and correlated our findings with the associated dental phenotype variations. The degree of loss of DNA-binding and promoter activation correlated quite well with the severity of the tooth agenesis pattern in vivo. Our structure-based studies, which modeled DNA binding and subdomain stability, were able to predict functional consequences quite reliably.