Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.

@article{Hermanns2013TwoCO,
  title={Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.},
  author={Pia Hermanns and Helmut Grasberger and Ronald Cohen and Clemens Freiberg and Helmuth-Guenther Doerr and Samuel Refetoff and Joachim Pohlenz},
  journal={Thyroid : official journal of the American Thyroid Association},
  year={2013},
  volume={23 7},
  pages={791-6}
}
BACKGROUND Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report two novel PAX8 gene mutations (S54R and R133Q). We performed in vitro studies to functionally characterize these mutations. METHODS Using PAX8 expression vectors, we investigated whether the PAX8 mutants localized correctly to the… CONTINUE READING