Deletion of PAX9 and oligodontia: a third family and review of the literature.
OBJECTIVE
This study was conducted to report a family affected by benign hereditary chorea in which a large deletion including TTF1, PAX9, and other genes was identified and results in oligodontia.


METHODS
Clinical and radiological studies of the two affected members (mother and daughter) were used to describe the oligodontia present in both of them.


RESULTS
The missing teeth in both patients are described in detail, and these data are compared with the dental anomalies observed in the only two other families with deletions of PAX9 and with the data available for 12 previously reported families carrying different types of PAX9 mutations.


CONCLUSIONS
There is a clinical relevance for recognizing such families, and offering available therapies since childhood is stressed. Some genotype-phenotype correlations between PAX9 mutations and dental anomalies can be drawn.
Guala
Andrea
A
SOC Pediatria, Ospedale Castelli, Verbania, Italy.
Falco
Vittorio
V
Breedveld
Guido
G
De Filippi
Paola
P
Danesino
Cesare
C
D000848:Anodontia / Q000235:genetics*; D002648:Child; D002819:Chorea / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D051764:PAX9 Transcription Factor / Q000235:genetics*; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; C504003:TTF1 protein, human; D014157:Transcription Factors