1. [Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family].
- Author
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Cao J, Li J, Zhang Y, Niu H, Zhou Y, Li Z, Sun B, and Li Z
- Subjects
- Heterozygote, Humans, Mutation, Exome Sequencing, Genomics, SOXD Transcription Factors genetics
- 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.
- Published
- 2021
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