Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 526-529, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928451
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
China
/
Cleidocranial Dysplasia
/
Asian People
/
Core Binding Factor Alpha 1 Subunit
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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