A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

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• 作者：Wen’an Xu ; Qiuyue Chen ; Cuixian Liu ; Jiajing Chen ; Fu Xiong…
• 关键词：Craniofacial anomalies ; Oral systemic disease(s) ; RUNX2 ; Molecular genetics ; Haploinsufficiency ; Truncation protein
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：3600KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundHaploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.