Analysis of IQSEC2 gene variant in a child with X-linked mental retardation.
10.3760/cma.j.cn511374-20201030-00765
- Author:
Jianbo ZHAO
1
;
Xinying YANG
;
Jiuwei LI
;
Hongmei WANG
;
Weihua ZHANG
;
Fang FANG
Author Information
1. Department of Neurology, Beijing Children' s Hospital, Capital Medical University, National Center for Children' s Health, Beijing 100045, China. 13910150389@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Guanine Nucleotide Exchange Factors/genetics*;
Heterozygote;
Humans;
Intellectual Disability/genetics*;
Mental Retardation, X-Linked/genetics*;
Mutation;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(4):421-424
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.
METHODS:The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.
RESULTS:The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.
CONCLUSION:The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
