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  

Identification of a novel missense mutation in the RUNX2 gene in two patients with cleidocranial dysplasia from one Chinese family

作　　者：刘康香[1] 张增[2] 钟燕[1] 黄秋双[1] 章振林[2] 

机构地区：[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

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2011年第4期232-236,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(81070692、81170803);上海市科委重大科技专题攻关专项(10D1950100);上海市卫生局新百人优秀学科带头人培养计划(XBR2011014)

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RUNX2基因第5外显子新突变(p.Arg225Gln)。家庭中其他健康成员及100名健康志愿者均未发现RUNX2基因突变。结论通过RUNX2基因检测,在中国人群中发现1个RUNX2基因新致病突变,扩展了CCD的基因突变谱,对阐明该病的发病机制及早期分子诊断有重要的意义。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.

关 键 词：锁骨颅骨发育不全 RUNX2 基因突变 

分 类 号：R681[医药卫生—骨科学]