颅骨锁骨发育不全1例及基因检测分析  

Cleidocranial dysplasia:a case report and gene mutation analysis

作　　者：张鹏[1] 何平华[1] 徐佩琼 廖岚[3] Zhang Peng;He Pinghua;Xu Peiqiong;Liao Lan(Dept.of Oral and Maxillofacial Imaging,Affiliated Stomatological Hospital of Nanchang University,The Key Laboratory of Oral Biomedicine in Jiangxi Province,Jiangxi Province Clinical Research Center for Oral Diseases,Nanchang 330006,China;Dept.of Orthodontics,Affiliated Stomatological Hospital of Nanchang University,he Key Laboratory of Oral Biomedicine in Jiangxi Province,Jiangxi Province Clinical Research Center for Oral Diseases,Nanchang 330006,China;Dept.of Prosthodontics,Affiliated Stomatological Hospital of Nanchang University,The Key Laboratory of Oral Biomedicine in Jiangxi Province,Jiangxi Province Clinical Research Center for Oral Diseases,Nanchang 330006,China)

机构地区：[1]南昌大学附属口腔医院口腔颌面影像科江西省口腔生物医学重点实验室江西省口腔疾病临床医学研究中心,南昌330006 [2]南昌大学附属口腔医院口腔正畸科江西省口腔生物医学重点实验室江西省口腔疾病临床医学研究中心,南昌330006 [3]南昌大学附属口腔医院口腔修复科江西省口腔生物医学重点实验室江西省口腔疾病临床医学研究中心,南昌330006

出　　处：《华西口腔医学杂志》2022年第3期360-364,共5页West China Journal of Stomatology

基　　金：国家自然科学基金(82160194,81960492);江西省自然科学基金(20181ACB20022);江西省重点研发计划(20212BBG73022)。

摘　　要：颅骨锁骨发育不全是一种罕见的常染色体显性遗传,主要影响全身骨骼和牙齿发育,发病率约为1∶1000000。本文对1例颅骨锁骨发育不全病例进行报道及文献回顾,基因检测证实RUNX26p21.1 NM_001024630.3 Exon4 c.534dupA p.(Val179fs)移码突变,为一个新的突变位点。Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1000000.In this study,a case of cranio-clavicular dysplasia was reported,and related literature was reviewed.RUNX26p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs)was identified to be a new frameshift mutation by gene analysis.

关 键 词：颅骨锁骨发育不全 常染色体显性遗传 移码突变 

分 类 号：R781.9[医药卫生—口腔医学]