[Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):765-767. doi: 10.3760/cma.j.cn511374-20210126-00077.
[Article in Chinese]

Abstract

Objective: To explore the genetic basis for a case of Lamb-Shaffer syndrome.

Methods: Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.

Results: The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).

Conclusion: The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.

Publication types

  • Case Reports

MeSH terms

  • Exome Sequencing
  • Genomics*
  • Heterozygote
  • Humans
  • Mutation
  • SOXD Transcription Factors* / genetics

Substances

  • SOX5 protein, human
  • SOXD Transcription Factors