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| 锁骨颅骨发育不全1个家系2例患者RUNX2基因突变检测报告及文献复习 | |
| 引用本文： | 刘康香,张增,钟燕,黄秋双,章振林. 锁骨颅骨发育不全1个家系2例患者RUNX2基因突变检测报告及文献复习[J]. 中华骨质疏松和骨矿盐疾病杂志, 2011, 4(4): 232-236. DOI: 10.3969/j.issn.1674-2591.2011.04.003 |
| 作者姓名： | 刘康香 张增 钟燕 黄秋双 章振林 |
| 作者单位： | 1. 湖南省儿童医院儿童保健所,长沙,410007 2. 上海交通大学附属第六人民医院骨质疏松与骨病专科骨代谢病和遗传研究室,上海,200233 |
| 基金项目： | 国家自然科学基金，上海市科委重大科技专题攻关专项，上海市卫生局新百人优秀学科带头人培养计划 |
| 摘 要： | 目的 探讨RUNX2基因突变在锁骨颅骨发育不全(CCD)发病中的意义及中国家族性CCD的发病机制.方法 一个中国家系2例CCD患者均表现为锁骨发育不良、头颅矢状缝明显增宽、巨大骨质缺损和坐骨支缺失.本研究提取该家系中2例患者、6位健康成员的外周血及100名健康志愿者进行RUNX2基因测序.结果 发现2例患者均携带RUN... |
| 关 键 词： | 锁骨颅骨发育不全 RUNX2 基因突变 |
Identification of a novel missense mutation in the RUNX2 gene in two patients with cleidocranial dysplasia from one Chinese family |
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| Affiliation: | LIU Kang-xiang , ZHANG Zeng2. , ZHONG Yan , et al Child Health Center, Children＇s Hospital of Hunan Province, Changsha 410007; 2. Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People＇s Hospital, Shanghai 200233, China |
| Abstract: | Objective To study the RUNX2 gene mutation in Chinese patients with familial cleidocranial dysplasia （CCD）. Methods Two Chinese patients with CCD from one family were investigated in the present study. The patients had hypoplastic clavicles, open fontanel, and absent rami ischii. Results We screened for RUNX2 gene mutations and found one novel missense mutation （p. Arg225Gln） in the patients. No RUNX2 gene mutation was found in the DNA samples from healthy family members and 100 volunteers. Conclusion Our study extends the mutation spectrum of CCD and is helpful in early molecular diagnosis of CCD. |
| Keywords: | cleidocranial dysplasia RUNX2 mutation |
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