RUNX2基因c.196C>T无义变异导致颅锁骨发育不全症一例  

Identification of c. 196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia

作　　者：周冰娜 郑文彬 胡静 王鸥 姜艳 夏维波 邢小平 李梅 Zhou Bingna;Zheng Wenbin;Hu Jing;Wang Ou;Jiang Yan;Xia Weibo;Xing Xiaoping;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)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华医学遗传学杂志》2022年第5期526-529,共4页Chinese Journal of Medical Genetics

基　　金：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)。

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。Objective To detect the genetic variant of a child with cleidocranial dysplasia(CCD)and to find out the causation of the illness.Methods Gene variant was identified by the second generation targeted sequencing and Sanger sequencing.Results The 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).Conclusion The 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.

关 键 词：颅锁骨发育不全症 RUNX2基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]