一例Lamb-Shaffer综合征患者的SOX5基因变异分析

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

目的对1例Lamb-Shaffer综合征患者进行基因变异分析,明确其可能的遗传学病因。方法对患者进行全外显子组测序(whole exome sequencing,WES),应用Sanger测序进行验证。结果WES结果显示患者SOX5基因存在c.1495delA(p.Thr499Glnfs*5)杂合变异,父母均未携带此变异,为新发变异,根据美国医学遗传学与基因组学学会遗传变异分类标准与指南,该变异判定为致病性变异(PVS1+PS2+PM2)。结论SOX5基因c.1495delA(p.Thr499Glnfs*5)变异可能是该Lamb-Shaffer综合征患者的遗传学病因。

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 SOX5gene 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.