Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1.
10.3760/cma.j.cn511374-20210615-00501
- Author:
Fengyu CHE
1
;
Ying YANG
;
Liyu ZHANG
;
Xiaoling TIE
Author Information
1. Research Institute of Pediatric Diseases of Shaanxi province, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China. 59857342@qq.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
China;
DNA-Binding Proteins/genetics*;
Face/abnormalities*;
Facies;
Hand Deformities, Congenital/genetics*;
Humans;
Intellectual Disability/genetics*;
Micrognathism/genetics*;
Neck/abnormalities*;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(8):848-853
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features.
METHODS:Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants.
RESULTS:The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously.
CONCLUSION:The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
