A Novel Gene Mutation of Runx2 in Cleidocranial Dysplasia

• Published in: Current medical science Vol. 37; no. 5; pp. 772 - 776
• Main Author: 彭友俭;陈巧云;付东杰;刘志明;毛甜甜;李俊;佘文婷
• Format: Journal Article
• Language: English
• Published: Wuhan Huazhong University of Science and Technology 01.10.2017; Department of Stomatology, Renmin Hospital of Wuhan University, Wuhan 430060, China
• Subjects: Medicine; Medicine & Public Health; mutation; genetic testing; RUNX2; cleidocranial dysplasia

Haploinsufficiency of the runt-related transcription factor 2（Runx2） gene is widely known to be responsible for cleidocranial dysplasia（CCD）. To date, more than 190 mutations in Runx2 gene have been reported to be related to CCD. In this study, a novel mutation of Runx2 gene was observed in a female...