Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

@article{Rosenfeld2009GenotypephenotypeAO,
  title={Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations},
  author={Jill A Rosenfeld and Kathleen Leppig and Blake C. Ballif and Heidi A. Thiese and Christine R. Erdie-Lalena and Erwati Bawle and Sujatha Sastry and Jennifer E Spence and Anne M Bandholz and Urvashi Surti and Jonathan Zonana and Kory L Keller and Wendy S. Meschino and Bassem A. Bejjani and Beth S. Torchia and Lisa Gail Shaffer},
  journal={Genetics in Medicine},
  year={2009},
  volume={11},
  pages={797-805}
}
Purpose: Pitt-Hopkins syndrome is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset seizures and intermittent episodes of hyperventilation. This syndrome is caused by haploinsufficiency of TCF4, which encodes a basic helix-loop-helix transcription factor. Missense, nonsense, splice-site mutations, and gene deletions have been found in individuals with Pitt-Hopkins syndrome. Previous reports have suggested that the Pitt-Hopkins… CONTINUE READING
23 Citations
44 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 23 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 44 references

Functional analysis of a dominant negative mutation of interferon regulatory factor 5

  • MC Willing, SP Deschenes, RL Slayton, EJ Roberts
  • PLoS One
  • 2009

Specification of the central noradrenergic Rosenfeld et al. Genetics IN Medicine

  • A Pattyn, C Goridis, JF. Brunet
  • Mol Cell Neurosci
  • 2009

Similar Papers

Loading similar papers…