A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia
A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia
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DOI：
10.1016/j.ijom.2010.09.025
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发表时间：
2011-04-01
影响因子：
2.4
通讯作者：
Tokita, Y.
中科院分区：
文献类型：
--
作者：
Kamamoto, M.;Machida, J.;Tokita, Y.
锁骨颅骨发育不良（CCD）是一种常染色体显性遗传性骨骼疾病，具有高外显率和可变表达率。尽管RUNX2/CBFA1（一种成骨细胞特异性转录因子）的许多突变已被确定为导致CCD的原因，但尚不清楚这些突变基因型是否与各种症状有关。RUNX2/CBFA1的异质突变导致以骨骼发育异常和牙齿疾病为特征的疾病。很少有报道描述详细的口面部病理与RUNX2/CBFA1基因型之间的关系。一例日本患者严重口面发育不良，临床认为患有CCD。作者对RUNX2/CBFA1基因进行了突变分析，发现了一个新的移码突变（722delT），该突变产生RUNX2/CBFA1突变体，其c端在runt结构域远端截断。
Cleidocranial dysplasia (CCD) is an autosomal dominant inherited skeletal disease with high penetrance and variable expressivity. Although many mutations in RUNX2/CBFA1, an osteoblast-specific transcription factor, have been identified as causes of CCD, it is unclear whether these mutation genotypes relate to various symptoms. Heterogeneous mutations of RUNX2/CBFA1 result in disease characterized by abnormal skeletal genesis and dental disorders. There are few reports describing the relation between detailed orofacial pathology and the RUNX2/CBFA1 genotype. The case of a Japanese patient with severe orofacial dysplasia who was clinically thought to have CCD is described here. The authors performed mutation analysis on the RUNX2/CBFA1 gene and identified a novel frameshift mutation (722delT), which produces a mutant RUNX2/CBFA1 with a truncating C-terminus distal to the runt domain.