颅骨锁骨发育不良综合征患者1例及基因突变分析  

Cleidocranial dysplasia:A case report and genemutation analysis

作　　者：张晗 陈远萍[1] 黎涵懿 孙芸芸 朱宪春[1] ZHANG Han;CHEN Yuanping;LI Hanyi;SUN Yunyun;ZHU Xianchun(Department of Orthodontics,Hospital of Stomatology,Jilin University,China,130021 Changchun;Department of Stomatology,Women and Children Hospital,Guangzhou;Department of Stomatology,Tangshan Workers'Hospital)

机构地区：[1]吉林大学口腔医院正畸科,长春130021 [2]广州市妇女儿童医疗中心口腔科 [3]唐山市工人医院口腔科

出　　处：《实用口腔医学杂志》2025年第1期135-138,共4页Journal of Practical Stomatology

基　　金：吉林省卫健委地方标准项目(编号:DB22/T 3388-2022)。

摘　　要：颅骨锁骨发育不良综合征(CCD),常表现为骨骼及牙齿发育异常,是一种由Runx2基因突变所引起的常染色体显性遗传病。文章对1例颅骨锁骨发育不良综合征患者进行报道,采用先证者查证法对先证者及其家系进行全身状况、口腔专科及基因检查,证实了一个新的无义突变exon7c.1078C>T,p.Gln360*杂合变异(p.Q360X),并分析了Runx2基因突变与CCD表型间的关系。Cleidocranial dysplasia(CCD)is a rare autosomal dominant disorder mainly characterized by skeletal and dental abnormalities.It is caused by the runt-related transcription factor-2(Runx2)mutations.In this paper,a case of CCD syndrome is reported.The proband and his family were examined by the proband's verification method for general condition,oral specialty and genetic examination.A new nonsense mutation exon7 c.1078C>T,p.Gln360*heterozygous variant(Q360X)was verified,the relationship between Runx2 mutation and CCD phenotype was analyzed.

关 键 词：颅骨锁骨发育不良综合征 Runx2基因 基因突变 正畸牵引治疗 

分 类 号：R596.1[医药卫生—内科学] R783.5[医药卫生—临床医学]