[Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1120-1123. doi: 10.3760/cma.j.cn511374-20190912-00469.
[Article in Chinese]

Abstract

Objective: To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.

Methods: Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated.

Results: Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic.

Conclusion: The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.

MeSH terms

  • Angelman Syndrome* / diagnosis
  • Angelman Syndrome* / genetics
  • Child
  • Frameshift Mutation*
  • Genetic Testing
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases