Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Zhou Bingna, Zheng Wenbin, Hu Jing, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li Mei
Аннотация
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.
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.