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ENGLISH ABSTRACT
RUNX2基因c.196C>T无义变异导致颅锁骨发育不全症一例
周冰娜
郑文彬
胡静
王鸥
姜艳
夏维波
邢小平
李梅
作者及单位信息
·
DOI： 10.3760/cma.j.cn511374-20210119-00055
Identification of c. 196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia
Zhou Bingna
Zheng Wenbin
Hu Jing
Wang Ou
Jiang Yan
Xia Weibo
Xing Xiaoping
Li Mei
Authors Info & Affiliations
Zhou Bingna
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Zheng Wenbin
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Hu Jing
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Wang Ou
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Jiang Yan
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Xia Weibo
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Xing Xiaoping
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Li Mei
Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
·
DOI： 10.3760/cma.j.cn511374-20210119-00055
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摘要

目的对1例颅锁骨发育不全症(cleidocranial dysplasia，CCD)患儿进行基因变异分析，明确其可能的致病原因。

方法应用二代靶向测序与Sanger测序进行基因变异分析。

结果基因测序结果显示患儿 RUNX2基因存在c.196C>T(p.Glu66*)无义变异，根据美国医学遗传学与基因组学学会遗传变异分类标准与指南，判定为致病性变异(PVS1+PS2)。

结论 RUNX2基因c.196C>T可能为患儿的致病原因，新变异的检出丰富了 RUNX2基因变异谱。

颅锁骨发育不全症; RUNX2基因 ;基因变异
ABSTRACT

ObjectiveTo detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness.

MethodsGene variant was identified by the second generation targeted sequencing and Sanger sequencing.

ResultsThe gene sequencing revealed that the RUNX2 gene had c. 196C>T(p.Glu66*) nonsense variant, which was predicted to be a pathogenic variant according to the ACMG guidelines(PVS1+ PS2).

ConclusionThe variant of c. 196C > T in the RUNX2 gene may be the cause of the child with CCD, and the novel variant enriches the RUNX2 gene variant spectrum.

Cleidocranial dysplasia; RUNX2 gene ;Gene variant
Li Mei, Email: mocdef.aabnishzliemil
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引用本文

周冰娜,郑文彬,胡静,等. RUNX2基因c.196C>T无义变异导致颅锁骨发育不全症一例 [J]. 中华医学遗传学杂志,2022,39(05)：526-529.

DOI:10.3760/cma.j.cn511374-20210119-00055

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颅锁骨发育不全症(cleidocranial dysplasia, CCD)(OMIM：119600)的患病率约百万分之一，CCD特征是颅骨骨化延迟、囟门延迟闭合或不闭合、牙齿畸形、锁骨发育不全、多种脊柱畸形等 [ 1 ]。CCD主要由Runt相关转录因子2(Runt-related transcription factor 2， RUNX2)的编码基因变异引起，人 RUNX2基因位于染色体6p21，由8个外显子组成 [ 2 ]。RUNX2蛋白是骨骼主要的转录因子之一，对成骨细胞分化和骨骼发育发挥重要作用。本研究对1例患儿进行基因变异分析，明确其可能的致病原因。
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备注信息
A
李梅，Email： mocdef.aabnishzliemil
B

周冰娜：实验操作，分析数据，论文撰写；郑文彬、胡静：采集数据；王鸥、姜艳、夏维波、邢小平：指导研究；李梅：指导研究，论文修改，经费支持

C
所有作者均声明不存在利益冲突
D
国家重点研发计划 (2018YFA0800801)
国家自然科学基金面上项目 (81873668，82070908)
北京市自然科学基金资助项目 (7202153)
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