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努南综合征谱系障碍使人易患系统性红斑狼:病例报告和文学批判性审查
Anastasia-Vasiliki Madenidou1,2, Gillian I Rice3,4, James O'Sullivan3,4
1Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK.
American journal of medical genetics. Part A
|January 7, 2026
概括
与RAS/MAPK途径相关的RAS病变与系统性红斑狼 (SLE) 有关. 这项研究强调了Noonan综合征和SLE中的新SOS1变异,表明了RAS/MAPK通路.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 神经发育障碍 神经发育障碍
背景情况:
- 拉索病是一种由RAS/MAPK路径突变引起的基因疾病,通常具有重叠的临床特征.
- 努南综合征谱系障碍 (NSSD) 是RASopathies的一个子集,越来越多的证据将它们与系统性红斑狼 (SLE) 等自身免疫性疾病联系起来.
- 与NSSD相关的SLE的特定遗传基础和临床表现尚未完全阐明.
研究的目的:
- 调查诺南综合征谱系障碍 (NSSD) 和系统性红斑狼 (SLE) 之间的关联.
- 报告SOS1相关的诺南综合征患者SLE新病例.
- 审查现有文献,寻找NSSD和SLE同时发生的进一步病例.
主要方法:
- 一个SLE患者的病例介绍,该患者确实患有SOS1致病变体 (c.806T>C; p.Met269Thr),导致诺南综合征.
- 综合性文献审查,以识别和分析之前报告的与SLE相关的NSSD病例.
- 确定病例的分子诊断确认,重点关注RAS/MAPK通路基因内的变异.
主要成果:
- 介绍了一个患有SOS1相关的努南综合征的患者中SLE的新病例,这是第一个此类报告.
- 在文献中,共发现了16例与SLE相关的NSSD病例.
- 在这16例病例中,分子诊断揭示了KRAS,PTPN11和SHOC2基因的致病变异,SHOC2变异在具有分子确认的人群中最常见.
结论:
- RAS/MAPK通路可能在SLE的发病过程中发挥作用,特别是在NSSD患者中.
- 与NSSD相关的SLE往往在较年轻的年龄表现出来,与一般的SLE人口相比.
- 这项研究强调了在SLE等自身免疫性疾病的背景下,考虑RAS/MAPK通路内的遗传倾向的重要性.
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