Cleidocranial dysplasia:A case report and genemutation analysis

VernacularTitle:颅骨锁骨发育不良综合征患者1例及基因突变分析
Author: Han ZHANG ¹ ; Yuanping CHEN ; Hanyi LI ; Yunyun SUN ; Xianchun ZHU
Author Information

1. 130021 长春,吉林大学口腔医院正畸科
Publication Type:Journal Article
Keywords: Cleidocranial dysplasia; Runt-related transcription factor-2; Gene mutation; Orthodontic traction treatment
From: Journal of Practical Stomatology 2025;41(1):135-138
CountryChina
Language:Chinese
Abstract: Cleidocranial dysplasia(CCD)is a rare autosomal dominant disorder mainly characterized by skeletal and dental abnormali-ties.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.