OBJECTIVES: The goal of our research was to look into the clinical traits and genetic mutations in nonsyndromic oligodontia in a Chinese family and to gain insight into the role of mutations of PAX9, MSX1 and AXIN2 in oligodontia phenotypes. MATERIALS AND METHODS: 6 subjects from a family underwent complete oral examination, including panoramic radiographs. Retrospective data were reviewed and blood samples were collected. PCR primers for PAX9, MSX1, and AXIN2 were designed through the Oligo Primer Analysis Software. PCR products were purified and sequenced using the BigDye Terminator Kit and analysed by the 3730 DNA Analyzer. RESULTS: The proband missed 4 permanent canines, 2 permanent maxillary lateral incisors, 2 permanent mandibular lateral incisors, and 2 permanent mandibular central incisors, whilst his maternal grandfather lacked only 2 permanent mandibular central incisors. Moreover, the size of some permanent teeth appeared smaller than normal values of crown width of Chinese people. Oligodontia and abnormalities of teeth were not present in other family members. Radiographic examination showed that the proband and the rest of family members retained all germs of the third molars. There was one known mutation A240P (rs4904210) of PAX9 in the coding region in the proband and the maternal family members (II-2, II-3, and II-4), which possibly contributed to structural and functional changes of proteins. No mutations were identified in MSX1 and AXIN2. CONCLUSIONS: Our findings may imply that the PAX9 A240P mutation is a risk factor for oligodontia in the Chinese population. A240P is likely to be a genetic cause of oligodontia though previous literature suggested it as a polymorphism only.
OBJECTIVES: The goal of our research was to look into the clinical traits and genetic mutations in nonsyndromic oligodontia in a Chinese family and to gain insight into the role of mutations of PAX9, MSX1 and AXIN2 in oligodontia phenotypes. MATERIALS AND METHODS: 6 subjects from a family underwent complete oral examination, including panoramic radiographs. Retrospective data were reviewed and blood samples were collected. PCR primers for PAX9, MSX1, and AXIN2 were designed through the Oligo Primer Analysis Software. PCR products were purified and sequenced using the BigDye Terminator Kit and analysed by the 3730 DNA Analyzer. RESULTS: The proband missed 4 permanent canines, 2 permanent maxillary lateral incisors, 2 permanent mandibular lateral incisors, and 2 permanent mandibular central incisors, whilst his maternal grandfather lacked only 2 permanent mandibular central incisors. Moreover, the size of some permanent teeth appeared smaller than normal values of crown width of Chinese people. Oligodontia and abnormalities of teeth were not present in other family members. Radiographic examination showed that the proband and the rest of family members retained all germs of the third molars. There was one known mutation A240P (rs4904210) of PAX9 in the coding region in the proband and the maternal family members (II-2, II-3, and II-4), which possibly contributed to structural and functional changes of proteins. No mutations were identified in MSX1 and AXIN2. CONCLUSIONS: Our findings may imply that the PAX9 A240P mutation is a risk factor for oligodontia in the Chinese population. A240P is likely to be a genetic cause of oligodontia though previous literature suggested it as a polymorphism only.