West China Journal of Stomatology ›› 2022, Vol. 40 ›› Issue (3): 360-364.doi: 10.7518/hxkq.2022.03.018

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Cleidocranial dysplasia: a case report and gene mutation analysis

Zhang Peng1(), He Pinghua1, Xu Peiqiong2, Liao Lan3()   

  1. 1.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
    2.Dept. of Orthodontics, 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
    3.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
  • Received:2021-02-04 Revised:2022-02-18 Online:2022-06-01 Published:2022-06-01
  • Contact: Liao Lan E-mail:444216331@qq.com;liaolan5106@163.com
  • Supported by:
    The National Natural Science Foundation of China(82160194);Natural Science Foundation of Jiangxi Province(20181ACB20022);Key Research and Development Plan of Jiangxi Province(20212BBG73022);Correspondence: Liao Lan, E-mail: liaolan5106@163.com

Abstract:

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∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.

Key words: cleidocranial dysplasia, autosomal dominant inheritance, frame shift mutation

CLC Number: