摘要
回顾性分析2019年4月郑州大学第一附属医院儿科诊断的1例DDX3X基因突变引起X连锁精神发育迟滞102型患儿的临床资料。患儿,女,2岁3个月,因"发育迟缓1年余"就诊,利用二代测序技术进行全外显子检测,结果显示DDX3X基因13号外显子存在c.1463G>A杂合突变,属于新发突变。中国人群尚无DDX3X基因突变患者报道,国外文献共检索到8篇相关病例报道,患儿均有不同程度精神发育迟滞。因此对不明原因的精神发育迟滞患者(尤其是女性),需警惕DDX3X基因突变的可能。
Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with"delay for more than 1 year",using second-generation sequencing technology for full exon detection,and the result is DDX3X gene 13th exon c.1463G>A hybridization mutation,this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations,and there are 8 related cases were reported in foreign literature,all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients)need to be wary of the possibility of DDX3X gene mutation.
作者
刘念
王越
史丹丹
姚运
丁金金
赵盼
罗强
王怀立
田培超
Liu Nian;Wang Yue;Shi Dandan;Yao Yun;Ding Jinjin;Zhao Pan;Luo Qiang;Wang Huaili;Tian Peichao(Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2020年第15期1188-1190,共3页
Chinese Journal of Applied Clinical Pediatrics
