Transcription factor haploinsufficiency: when half a loaf is not enough.

@article{Seidman2002TranscriptionFH,
  title={Transcription factor haploinsufficiency: when half a loaf is not enough.},
  author={J G Seidman and Christine E Seidman},
  journal={The Journal of clinical investigation},
  year={2002},
  volume={109 4},
  pages={451-5}
}
Two articles in this issue of the JCI (1, 2) describe haploinsufficiency of the transcription factor Nkx2-1 (also known as TTF1) as the cause of a heretofore unrecognized human syndrome characterized by neurological, thyroid, and pulmonary dysfunction. Definition of the disorder and elucidation of its cause is a real tribute to the astute clinicians who looked beyond unusual laboratory values and carefully considered the multisystem manifestations in very young patients. Affected infants had… CONTINUE READING