Article
RUNX2 analysis of Danish cleidocranial dysplasia families.
Clinical genetics - 1 Mar 2011
Hansen L, Riis A K, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S
Abstract excerpt
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...
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