Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

@article{Riazuddin2010MissenseMI,
  title={Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.},
  author={Saima Riazuddin and Norann A. Zaghloul and Amr Al-Saif and Lisa D. Davey and Bill H Diplas and Danielle N Meadows and Allen O Eghrari and Mollie A. Minear and Yi-Ju Li and Gordon K. Klintworth and Natalie A. Afshari and Simon G. Gregory and John D. Gottsch and Nicholas Katsanis},
  journal={American journal of human genetics},
  year={2010},
  volume={86 1},
  pages={45-53}
}
Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying genetic basis of FCD is largely unknown. Here we report missense mutations in TCF8, a transcription factor whose haploinsufficiency causes posterior polymorphous corneal dystrophy (PPCD), in a cohort of late-onset FCD patients. In contrast to… CONTINUE READING