Analysis of one case of neuroblastoma amplified sequence gene intron mutation and literature review
LI Yuwei
QIANG Rong
LIU Yuan
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.
Keywords：neuroblastoma amplified sequence geneliver injurywhole exome sequencingsplicing mutation
Publication Date：2025-07-31
Online Publishing Date：2026-08-26(First online date of this platform, not the publication date of the document)
Pages：4( 883-886 )