Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC2734498 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Mutagenesis 20090610 5
Cleidocranial dysplasia (CCD) is an autosomal dominant bone disease in humans caused by haploinsufficiency of the RUNX2 gene. The RUNX2 has two major isoforms derived from P1 and P2 promoters. Over 90 mutations of RUNX2 have been reported associated with CCD. In our study, DNA samples of nine individuals from three unrelated CCD families were collected and screened for all exons of RUNX2 and 2 kb of P1 and P2 promoters. We identified two point mutations in the RUNX2 gene in Case 1, including a n ...[more]