Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene.
10.3760/cma.j.cn511374-20210928-00783
- Author:
Qiong WANG
1
;
Ying YANG
;
Lili LIU
;
Xiaoling TIE
;
Haihong LEI
;
Liyu ZHANG
;
Fengyu CHE
Author Information
1. Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China. 0612024061@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
DEAD-box RNA Helicases/genetics*;
Female;
Heterozygote;
Humans;
Intellectual Disability/genetics*;
Mental Retardation, X-Linked/genetics*;
Mutation;
Pedigree;
Pregnancy;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(10):1111-1115
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation.
METHODS:Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed.
RESULTS:The child was found to harbor a heterozygous NM_001193416.3: c.1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents.
CONCLUSION:The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.
