Case report of X-linked intellectual disability caused by DDX3X gene mutation and literature review
10.3760/cma.j.cn101070-20190905-00846
- VernacularTitle:DDX3X基因突变致X连锁精神发育迟滞1例并文献复习
- Author:
Nian LIU
1
;
Yue WANG
;
Dandan SHI
;
Yun YAO
;
Jinjin DING
;
Pan ZHAO
;
Qiang LUO
;
Huaili WANG
;
Peichao TIAN
Author Information
1. 郑州大学第一附属医院儿科 450052
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(15):1188-1190
- CountryChina
- Language:Chinese
-
Abstract:
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 13 th 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.
