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中国循证儿科杂志

中国循证儿科杂志 ›› 2017, Vol. 12 ›› Issue (6): 452-456.

• 论著 • 上一篇    下一篇

NRAS基因突变致系统性红斑狼疮1例并文献复习

李国民 1),3)，刘海梅 1),3)，钱琰琰 2)，史雨 1)，姚文 1)，张涛 1)，周利军 1)，徐虹 1)，吴冰冰2)，孙利1)   

  1. 复旦大学附属儿科医院上海，201102；1）肾脏风湿科，2）医学转化中心； 3）共同第一作者
  • 收稿日期:2017-10-13 修回日期:2017-12-22 出版日期:2017-12-25 发布日期:2017-12-25
  • 通讯作者: 孙利，E-mail: lillysun@263.net

Systemic lupus erythematosus caused by germline mutation in NRAS gene: a case report and literature review

LI Guo-min 1),3), LIU Hai-mei 1),3), QIAN Yanyan 2), SHI Yu 1), YAO Wen 1), ZHANG Tao 1), ZHOU Li-jun 1), XU Hong 1), WU Bing-bing 2), SUN Li 1)   

  1. Children's Hospital of Fudan University, Shanghai 201102, China; 1) Department of Nephrology and Rheumatology, 2) Medical Translational Center, 3) Co-first author
  • Received:2017-10-13 Revised:2017-12-22 Online:2017-12-25 Published:2017-12-25
  • Contact: SUN Li, E-mail: lillysun@263.net

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摘要： 摘要 目的：报告1例NRAS基因突变致系统性红斑狼疮（SLE）的临床特征，提高对NRAS基因突变表型谱的认识。方法：收集患儿的临床资料，包括病史特点、相关实验室检查和家族史等。采用外显子捕获的方法对患儿及其父母进行全外显子高通量测序，并进行生物信息学分析，通过Sanger测序对高通量测序结果进行验证。进行相关文献复习。结果：先证者，男，2.6岁，1岁后反复出现发热、外周血PLT和RBC计数下降；2.6岁时出现皮疹、左膝关节肿痛，有轻度蛋白尿，抗核抗体和抗ds-DNA抗体等多种自身抗体阳性。患儿无明显面容异常，其他脏器无畸形。测序发现NRAS基因c.38G>A （p.G13D）杂合突变，其父母均未携带，为新发突变。Sanger法验证了上述高通量测序结果。c.38G>A突变为已报道的致病性突变。结论：本研究显示生殖细胞NRAS基因突变患儿可仅有SLE表型，进一步丰富了NRAS基因突变表型谱。

Abstract: AbstractObjective: To summarize and review the clinical data of a case with systemic lupus erythematosus(SLE) caused by germline mutation in NRAS gene so as to improve the knowledge in spectrum of phenotype. Methods: Clinical data of a case with SLE were summarized, including clinical manifestations, laboratory findings and family investigation. The next generation sequencing was used to screen all exons of genomics in proband and her parents. Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing and segregation analysis was performed using parental DNA and her brother samples.Results: The proband, 2.6-year-old boy, presented with recurrent fever and thrombocytopenia after age of 1 year. She often had rash, left knee joint swelling and pain, and mild proteinuria since the age of 2.6 years. At the same time, laboratory tests showed that ANA, anti-dsDNA antibody and other autoantibodies were positive. The patient had no abnormal facial features and no abnormalities in other organs. Whole exon sequencing was performed in core family, including proband and her parents. Heterozygous c.38G>A (p.G13D) mutation in NRAS gene was detected in proband, which was not carried by his parents. It was a de novo mutation.The mutation was confirmed by Sanger sequencing in core family. Conclusion: This study showed that a patient with germline mutation in NRAS gene could cause presenting with only SLE phenotype, and further extended the spectrum phenotype of mutations in NRAS gene.