Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing.
10.3760/cma.j.cn511374-20210330-00283
- Author:
Youwei BAO
1
;
Xiaoli PAN
;
Shuqing PAN
;
Lisha GE
;
Danyan ZHUANG
;
Haibo LI
Author Information
1. Laboratory for Birth Defect Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Pregnancy;
DNA Helicases/genetics*;
Fetus;
Genetic Testing;
Nuclear Proteins/genetics*;
Phenotype;
Transcription Factors/genetics*;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(12):1375-1378
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical phenotype and genetic basis for a fetus suspected for Coffin-Siris syndrome.
METHODS:Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were carried out for the fetus. Candidate variant was verified by Sanger sequencing.
RESULTS:Prenatal ultrasound at 23rd gestational week has revealed fetal ventriculomegaly. No abnormality was found by CMA, while WES revealed that the fetus has harbored a de novo heterozygous c.2851G>A (p.G951R) variant of the SMARCA4 gene, which was predicted to be pathogenic.
CONCLUSION:Genetic testing should be considered for fetuses featuring progressive widening of lateral cerebral ventricles.
