Ontology highlight
ABSTRACT:
SUBMITTER: Hordyjewska E
PROVIDER: S-EPMC5582518 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Molecular syndromology 20170615 5
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the <i>RUNX2</i> gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in <i>RUNX2</i> identified in 3 affected members of a Polish family with CCD. The localization and transcriptional transactivation studies show that the mutated form of the protein has altered the s ...[more]