A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

@article{Hansen2007ANN,
  title={A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.},
  author={Lars J\orgen Hansen and Sven Kreiborg and Henrik Jarlov and Erik Niebuhr and Hans Eiberg},
  journal={European journal of oral sciences},
  year={2007},
  volume={115 4},
  pages={330-3}
}
Tooth development is under strict genetic control. During the last decade, studies in molecular genetics have led to the identification of gene defects causing the congenital absence of permanent teeth. Analyses of PAX9 and MSX1 in nine families with hypodontia and oligodontia revealed one new PAX9 mutation. A LOD score of Z = 1.8 (theta = 0.0) was obtained for D14S75 close to PAX9 in one three-generation family, and sequencing of the gene identified the nonsense mutation c.433C>T. The mutation… CONTINUE READING