Analysis Of Clinical Features And Gene Mutations Based In Five Families With Wilson’s Disease

Objective:Retrospective analysis the clinical characteristics of families with Wilson’s disease and the characteristics of ATP7 B gene mutation,and further explore the relationship between its mutation and the pathogenesis of Wilson’s disease,in order to provide some theoretical basis for the early diagnosis,treatment and genetic counseling of Wilson’s disease.Methods:Five families with Wilson’s disease diagnosed in the First Affiliated Hospital of Nanchang University from November 2019 to October 2020 were selected,and the patients and their family members were genetically tested.Their clinical data were analyzed.At the same time,the peripheral blood DNA of the patients and their family members was extracted,the ATP7 B gene was amplified by PCR,and the mutation was detected by DNA sequencing.The bioinformatics software Mutation Taster was used(http://www.mutationtaster.org/)to predicted the pathogenicity of the newly discovered mutation.Results:Patients in the five families had varying degrees of liver damage,and even liver failure,but no one had neurological symptoms.Most patients had K-F rings and decreased serum ceruloplasmin.All probands were found to have compound mutation,while the parents of probands only carried a single pathogenic mutation gene.A total of 7 pathogenic mutations were detected,including 5 missense mutations,1 nonsense mutation and 1 insertion mutation,including c.3087＿3088inst(p.G1030 wfs *39)was a newly discovered insertion mutation,which was predicted as a pathogenic mutation by bioinformatics software;In addition,10 single nucleotide polymorphisms were detected.One presymptomatic patient was diagnosed by family genetic analysis and gene detection,and the effect of early treatment was good.Conclusions:In this study,the hepatolenticular patients mostly showed liver damage,but their clinical symptoms and age of onset were different.Gene detection found that compound heterozygous mutation was the most common mutation form of ATP7 B.At the same time,a new pathogenic mutation of ATP7 B was also found.Gene sequencing is helpful for rapid diagnosis of presymptomatic patients in families with hepatolenticular degeneration.