空军军医大学学报2025，Vol.46Issue(7)：883-886,4.DOI:10.13276/j.issn.2097-1656.2025.07.006
神经母细胞瘤扩增序列基因内含子突变1例分析并文献复习
Analysis of one case of neuroblastoma amplified sequence gene intron mutation and literature review
摘要
Abstract
Objective To study the genetic etiology of a child with hepatic dysfunction and developmental delay,and to explore the clinical characteristics of patients with neuroblastoma amplified sequence(NBAS)mutation,so as to provide ideas for clinical diagnosis for NBAS mutation-related diseases.Methods Clinical characteristics of the child were collected through blood routine examination and laboratory test,imaging examination and electrophysiological examination.Whole exome sequencing and Sanger sequencing were used to detect and verify the variation of family members.Human Splicer Finder 3.1 and RNA Splicer were used to predict the influence of mutation sites on RNA splicing.The pathogenicity of NBAS mutations was rated according to the American College of Medical Genetics and Genomics guidelines.The phenotype-genotype of patients with NBAS mutation was summarized and analyzed by Human Gene Mutation Database retrieval and literature review.Results The main manifestation of the child was liver injury,accompanied by multi-organ involvement.The proband carried compound heterozygous variants of NBAS gene c.513+3A＞G and c.4582-3C＞G,which were separately inherited from her mother and father,and may affect the normal splicing of NBAS mRNA.Conclusion NBAS c.513+3A＞G and c.4582-3C＞G may cause a multisystem phenotype dominated by recurrent acute liver failure(RALF).NBAS mutation is one of the common causes of RALF.The phenotypic characteristics and degree of involvement of children are related to the form and location of NBAS mutation.Genetic testing and in-depth pathogenicity analysis should be considered for such patients.关键词
神经母细胞瘤扩增序列基因/肝损伤/全外显子测序/剪接突变Key words
neuroblastoma amplified sequence gene/liver injury/whole exome sequencing/splicing mutation分类
医药卫生引用本文复制引用
李雨微,强荣,刘瑗..神经母细胞瘤扩增序列基因内含子突变1例分析并文献复习[J].空军军医大学学报,2025,46(7):883-886,4.基金项目
国家自然科学基金青年科学基金(82201865) （82201865）
陕西省自然科学基础研究计划项目(2022JQ-936) （2022JQ-936）
陕西省卫生健康科研基金(2022D058) （2022D058）
