[Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):452-454. doi: 10.3760/cma.j.issn.1003-9406.2020.04.022.
[Article in Chinese]

Abstract

Objective: To explore the clinical and genetic features of a patient with mental retardation.

Methods: G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis.

Results: The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was known to predispose to Bainbridge-Ropers syndrome.

Conclusion: The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Codon, Nonsense
  • Developmental Disabilities / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Intellectual Disability / genetics*
  • Phenotype
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • ASXL3 protein, human
  • Codon, Nonsense
  • Transcription Factors