预测导致疾病的变异发生的因素在下一代测序中,在患有类固醇耐药性性综合征的儿童中预测这种变异的发生 - - 对资源有限的环境的影响
Anit Kaur1, Aaqib Zaffar Banday1, Lesa Dawman2
1Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Pediatric nephrology (Berlin, Germany)
|June 19, 2023
概括
对抗类固醇性性综合征 (SRNS) 的遗传检测至关重要. 在资源有限的环境中,早期发病年龄和家族史是识别单一性病因的关键预测因素.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 基因组医学是基因组医学.
背景情况:
- 高通量测序 (HTS) 已经推进了单一的类固醇耐药性性综合征 (SRNS) 识别.
- 下一代测序 (NGS) 可能无法在资源贫乏的环境中用于疑似单一的SRNS.
- 在资源有限的临床实践中,SRNS的最佳遗传评估策略仍未确定.
研究的目的:
- 确定预测SRNS患者致病变异的因素.
- 在资源有限的环境中指导遗传测试策略.
主要方法:
- 新诊断的SRNS患者的潜在招募和随访.
- 使用多变量分析独立预测致病变体的因素分析.
主要成果:
- 研究了36名患有SRNS的儿童/青少年,53%的人初始有类固醇耐药性.
- 有针对性的NGS在31% (11/36) 的患者中确定了致病性/可能致病性变体.
- 有变异的基因包括ALOX12B,COL4A3,CRB2,NPHS1,NPHS2,PLCE1和WT1;36%的变异是新鲜的.
- 发病时的早期年龄 (<1或<2岁) 和患有性综合征的家族史独立预测了单一的SRNS.
结论:
- 对于SRNS的NGS在全球范围内正在增长,但在资源有限的地区是不理想的.
- 优先考虑SRNS患者的基因测试资源,这些患者患有早期疾病发作和家族病史.
- 需要进一步进行多民族队列研究,以完善资源贫困环境中的遗传评估策略.
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