Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Dec 10;39(12):1375-1378.
doi: 10.3760/cma.j.cn511374-20210330-00283.

[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing]

[Article in Chinese]
Youwei Bao  1 , Xiaoli Pan, Shuqing Pan, Lisha Ge, Danyan Zhuang, Haibo Li
Affiliations
Case Reports

[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing]

[Article in Chinese]
Youwei Bao et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

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.

PubMed Disclaimer

Supplementary concepts