Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome.
10.3760/cma.j.cn511374-20201204-00845
- VernacularTitle:两个Coffin-Siris综合征家系的
ARID1B基因变异分析
- Author:
Yanbao XIANG
1
;
Ru WAN
;
Huanzheng LI
;
Chenyang XU
;
Yunzhi XU
;
Shaohua TANG
Author Information
1. Central Laboratory, Key Laboratory of Birth Defects of Wenzhou City, Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, China. tsh006@126.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
China;
DNA-Binding Proteins/genetics*;
Face/abnormalities*;
Hand Deformities, Congenital;
Humans;
Intellectual Disability;
Micrognathism;
Neck/abnormalities*;
Pedigree;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(3):282-285
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).
METHODS:Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.
RESULTS:The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION:The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
