Identification of a de novo missense variant of ARID1B gene in a child with mental retardation.
10.3760/cma.j.cn511374-20191006-00508
- VernacularTitle:ARID1B基因新发错义变异致精神发育迟滞一例
- Author:
Ting ZHANG
1
;
Qian WU
;
Jianbin YANG
;
Dingwen WU
;
Yaping SHEN
;
Rulai YANG
;
Xinwen HUANG
Author Information
1. Department of Genetics and Metabolism, Children's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, China. 6305022@zju.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1154-1157
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with mental retardation.
METHODS:The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software.
RESULTS:NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure.
CONCLUSION:The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family.
