A nonsense mutation in MSX1 causes Witkop syndrome.

@article{Jumlongras2001ANM,
  title={A nonsense mutation in MSX1 causes Witkop syndrome.},
  author={Dolrudee Jumlongras and Marianna Bei and John Stimson and Wei Wang and Steven R DePalma and Christine E Seidman and Ute Felbor and Renata Maas and Jonathan G Seidman and Bjorn Reino Olsen},
  journal={American journal of human genetics},
  year={2001},
  volume={69 1},
  pages={67-74}
}
Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder. We found linkage between TNS and polymorphic markers surrounding the MSX1 locus. Direct sequencing and restriction-enzyme analysis revealed that a heterozygous stop mutation in the… CONTINUE READING

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