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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2022

Zhou Bingna, Zheng Wenbin, Hu Jing, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li Mei

Abstract excerpt

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...

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PMID: 35598271
DOI: 10.3760/cma.j.cn511374-20210119-00055

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