中国循证儿科杂志2017，Vol.12Issue(6)：452-456,5.DOI:10.3969/j.issn.1673-5501.2017.06.010
NRAS基因突变致系统性红斑狼疮1例并文献复习
Systemic lupus erythematosus caused by germline mutation in NRAS gene:a case report and literature review
李国民 1孙利 1刘海梅 1钱琰琰 2史雨 1姚文 1张涛 1周利军 1徐虹 1吴冰冰2
作者信息
- 1. 复旦大学附属儿科医院肾脏风湿科 上海,201102
- 2. 复旦大学附属儿科医院医学转化中心 上海,201102
- 折叠
摘要
Abstract
Objective 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.ResuIts 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. ConcIusion 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.关键词
RAS病/Noonan综合征/系统性红斑狼疮/NRAS基因Key words
RASopathies/Noonan syndrome/Systemic lupus erythematosus/NRAS gene引用本文复制引用
李国民,孙利,刘海梅,钱琰琰,史雨,姚文,张涛,周利军,徐虹,吴冰冰..NRAS基因突变致系统性红斑狼疮1例并文献复习[J].中国循证儿科杂志,2017,12(6):452-456,5.
