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A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

Wen'an Xu1, Qiuyue Chen1,2, Cuixian Liu3

  • 1Department of Stomatology, Nanfang Hospital, College of Stomatology, Southern Medical University, Guangzhou, Guangdong, China.

BMC Medical Genetics
|February 9, 2017
PubMed
Summary

Novel RUNX2 gene mutations were identified in a Chinese family with cleidocranial dysplasia (CCD). These complex mutations lead to RUNX2 protein truncation and are associated with CCD pathogenesis.

Keywords:
Craniofacial anomaliesHaploinsufficiencyMolecular geneticsOral systemic disease(s)RUNX2Truncation protein

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