Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia.
10.3760/cma.j.cn511374-20210119-00055
- Author:
Bingna ZHOU
1
;
Wenbin ZHENG
;
Jing HU
;
Ou WANG
;
Yan JIANG
;
Weibo XIA
;
Xiaoping XING
;
Mei LI
Author Information
1. 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. limeilzh@sina.com.
- Publication Type:Journal Article
- MeSH:
Asians/genetics*;
Child;
China;
Cleidocranial Dysplasia/genetics*;
Core Binding Factor Alpha 1 Subunit/genetics*;
Humans;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(5):526-529
- CountryChina
- Language:Chinese
-
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.
