Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia / 中华医学遗传学杂志

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.