Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

@article{Pontual2009MutationalFA,
  title={Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.},
  author={Lo{\"i}c de Pontual and Yves D. Mathieu and Christelle Golzio and M. P. Vara-Del R{\'i}o and Val{\'e}rie Malan and Nathalie Boddaert and Christine Soufflet and Capucine Picard and Anne H Durandy and Angus Dobbie and D{\'e}lphine Heron and Bertrand Isidor and Jacques Motte and Ruth Newburry-Ecob and L Pasquier and Marc Tardieu and G{\'e}raldine Viot and Francis Jaubert and Arnold Munnich and Laurence Colleaux and Michel Vekemans and Heather C Etchevers and Stanislas Lyonnet and Jeanne Amiel},
  journal={Human mutation},
  year={2009},
  volume={30 4},
  pages={669-76}
}
Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that EEG, brain magnetic resonance imagain (MRI), and immunological investigations provide valuable additional clues to the diagnosis. We confirm a mutational hot spot in the basic domain of the E-protein. Functional studies illustrate that heterodimerisation of mutant TCF4 proteins with a tissue… CONTINUE READING