Clinical Genetics
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
Published 2022-05-10
Cite as Chin J Med Genet, 2022, 39(5): 526-529. DOI: 10.3760/cma.j.cn511374-20210119-00055
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.
Key words:
Cleidocranial dysplasia; RUNX2 gene; Gene variant
Contributor Information
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
