RUNX2 analysis of Danish cleidocranial dysplasia families.

@article{Hansen2011RUNX2AO,
  title={RUNX2 analysis of Danish cleidocranial dysplasia families.},
  author={Lars J\orgen Hansen and Anders Riis and Asli Silahtaroglu and Hanne D. Hove and Eva Lauridsen and Hans Eiberg and Sven Kreiborg},
  journal={Clinical genetics},
  year={2011},
  volume={79 3},
  pages={254-63}
}
Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication… CONTINUE READING