Kuan-Yu Chu, Yin-Lin Wang, Jung-Tsu Chen, Chia-Hui Lin, Chung-Chen Jane Yao, Yi-Jane Chen, Huan-Wen Chen, James P Simmer, Jan C-C Hu, Shih-Kai Wang
Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss-of-function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity. In this study, we identified five FTA kindreds with novel PAX9 disease-causing mutations: p.(Glu7Lys), p.(Val83Leu), p.(Pro118Ser), p.(Ser197Argfs*23), and c.771+4A>G. Concomitant PAX9 and WNT10A pathogenic variants found in two probands with severe phenotypes suggested an effect of mutational synergism. All overexpressed PAX9s showed proper nuclear localization, excepting the p...
April 2, 2023: Annals of the New York Academy of Sciences