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首页> 外文期刊>BMC Medical Genetics >Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH
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Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

机译：SH2D1A基因第1外显子的新型致病突变的扩增子测序：HLH病例报告

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Background Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagnosed as there are many common symptoms with other disorders. Case presentation Here we report on an HLH case caused by 1?bp deletion in gene SH2D1A . Patient was a 3-years-old boy and had fever for more than 8?days. Splenomegaly and hemophagocytosis in bone marrow were observed in examination. The results of the blood analysis suggested the diagnosis of HLH. Genetic test based on high throughput amplicon sequencing was then conducted by targeting all six known HLH-causing genes simultaneously. It took only one single day to accomplish the amplicon sequencing library preparation, sequencing and data analysis. Finally, a novel 1?bp deletion in gene SH2D1A was discovered. The result was also confirmed by Sanger sequencing. The result of the genetic test served as a good basis for further diagnosis of HLH. Conclusion This is the first case that the disease-causing genetic defect of HLH was quickly determined by high throughput amplicon sequencing. This diagnosis was also confirmed by Sanger sequencing and cross-validated by blood analysis and other clinical criteria. This case suggests that genetic test based on amplicon sequencing is a powerful tool for diagnosis of HLH and other diseases caused by genetic defect.
机译：背景噬血细胞淋巴组织细胞增生症（HLH）是一种罕见的致命性高炎症综合症，由活化巨噬细胞和分泌大量炎症细胞因子的T淋巴细胞的失控增殖引起。遗传缺陷是HLH的常见原因。 HLH的诊断很复杂，因为存在许多其他病症的常见症状。病例介绍在这里，我们报道了一个由SH2D1A基因1？bp缺失引起的HLH病例。患者是一个3岁的男孩，发烧超过8天。检查发现骨髓有脾肿大和吞噬细胞现象。血液分析结果提示HLH的诊断。然后通过同时靶向所有六个已知的引起HLH的基因进行基于高通量扩增子测序的遗传测试。仅一天的时间就完成了扩增子测序文库的制备，测序和数据分析。最后，在基因SH2D1A中发现了一个新的1bp缺失。 Sanger测序也证实了该结果。基因检测的结果为进一步诊断HLH奠定了良好的基础。结论这是第一个通过高通量扩增子测序快速确定HLH致病遗传缺陷的案例。 Sanger测序也证实了这一诊断，并通过血液分析和其他临床标准对其进行了交叉验证。这种情况表明，基于扩增子测序的基因检测是诊断HLH和其他由遗传缺陷引起的疾病的有力工具。

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