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Background Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in runt-related transcription factor 2 ( RUNX2 ) gene. Objective Identification and functional characterization of  RUNX2  mutation associated with CCD. Methods We performed genetic testing of a patient with CCD using whole exome sequencing and found a novel  RUNX2  frameshift mutation: c.1550delT in a sporadic case. We also compared the functional activity of the mutant and wild-type  RUNX2  through immunofluorescence microscopy and osteocalcin promoter luciferase assay. Results We found a novel  RUNX2  frameshift mutation, c.1550delT (p.Trp518Glyfs*60). Both mutant  RUNX2  and wild-type  RUNX2  protein were similarly confined in the nuclei. The novel mutation caused abrogative transactivation activity of  RUNX2  on osteocalcin promoter. Conclusions We explored a novel  RUNX2  deletion/frameshift mutation in a sporadic CCD patient. This finding suggests that the VWRPY domain may play a key role in  RUNX2  transactivation ability.

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia