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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Dec 10;39(12):1375-1378. doi: 10.3760/cma.j.cn511374-20210330-00283.
[Article in 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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple
  • DNA Helicases / genetics
  • Exome Sequencing
  • Face / abnormalities
  • Female
  • Fetus*
  • Genetic Testing*
  • Hand Deformities, Congenital
  • Humans
  • Intellectual Disability
  • Micrognathism
  • Neck / abnormalities
  • Nuclear Proteins / genetics
  • Phenotype
  • Pregnancy
  • Transcription Factors / genetics

Substances

  • DNA Helicases
  • Nuclear Proteins
  • SMARCA4 protein, human
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome