Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
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DOI：
10.1002/humu.9155
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发表时间：
2003-07-01
期刊：
影响因子：
3.9
通讯作者：
Santorelli, Filippo M
中科院分区：
文献类型：
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作者：
Tessa, Alessandra;Salvi, Sergio;Santorelli, Filippo M
我们报告了14例锁骨颅骨发育不良（CCD）患者的临床和分子学结果，CCD是一种明确的骨骼疾病，具有特征性临床表现和常染色体显性遗传。我们在RUNX2基因中鉴定了10个杂合碱基变化，包括6个新突变[c.522insA、c.389G>A（W130X）、c.662T>G（V221G）、IVS2+T>A、c.1111_1129del19和c.873_874delCA]。我们没有建立一个明确的临床特征和基因型之间的相关性，分析的所有患者的表型落在CCD中描述的变化范围内，没有预测的蛋白质的长度相关的影响。然而，在两例病例中，还发现了影响肩部肌肉的肢带肌病。我们的数据为CCD中的RUNX2突变库添加了新的变体。
We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a clear correlation between clinical features and genotype, the phenotypes of all patients analyzed falling within the range of variation described in CCD without an effect related to the length of the predicted protein. In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD.