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Published on: August 15, 2019
[Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family]
Jinghe Cao1, Jianwei Li, Yuqin Zhang
1Affiliated Hospital of Jining Medical University, Jining, Shandong 272029, China. sbg1982131@163.com.
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.
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