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.
作者
张鹏
何平华
徐佩琼
廖岚
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)
出处
《华西口腔医学杂志》
CAS
CSCD
北大核心
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)。
关键词
颅骨锁骨发育不全
常染色体显性遗传
移码突变
cleidocranial dysplasia
autosomal dominant inheritance
frame shift mutation
