颅骨锁骨发育不全1例及基因检测分析

doi:10.7518/hxkq.2022.03.018

华西口腔医学杂志 ›› 2022, Vol. 40 ›› Issue (3): 360-364.doi: 10.7518/hxkq.2022.03.018

颅骨锁骨发育不全1例及基因检测分析

张鹏¹(), 何平华¹, 徐佩琼², 廖岚³()

^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

收稿日期:2021-02-04 修回日期:2022-02-18 出版日期:2022-06-01 发布日期:2022-06-01
通讯作者: 廖岚 E-mail:444216331@qq.com;liaolan5106@163.com
作者简介:张鹏，主治医师，硕士，E-mail：444216331@qq.com
基金资助:
国家自然科学基金(82160194);江西省自然科学基金(20181ACB20022);江西省重点研发计划(20212BB-G73022)

Cleidocranial dysplasia: a case report and gene mutation analysis

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

^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

摘要/Abstract

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∶1 000 000。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RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupA p.（Val179fs）移码突变，为一个新的突变位点。

关键词: 颅骨锁骨发育不全, 常染色体显性遗传, 移码突变

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

中图分类号:

R 781.9

张鹏, 何平华, 徐佩琼, 廖岚. 颅骨锁骨发育不全1例及基因检测分析[J]. 华西口腔医学杂志, 2022, 40(3): 360-364.

Zhang Peng, He Pinghua, Xu Peiqiong, Liao Lan. Cleidocranial dysplasia: a case report and gene mutation analysis[J]. West China Journal of Stomatology, 2022, 40(3): 360-364.

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参考文献 17

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[1]	郭凌燕,徐珮琼,陈林林. 颅锁骨发育不全1例及基因突变分析[J]. 华西口腔医学杂志, 2019, 37(6): 677-680.
[2]	姜涛蒋序张运奎. 颅锁骨发育不全综合征2例病例报告及特征分析[J]. 华西口腔医学杂志, 2013, 31(1): 101-103.

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

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