Analysis Of Clinical And Genetic Characteristics Of A Family Of Children With Wilson’s Disease

Objective: To analyze the clinical and genetic characteristics of a family of children with Wilson disease(WD),which is convenient for early diagnosis and treatment,and provides a reliable theoretical basis for genetic counseling.Methods: The study was conducted by a family of highly suspected WD from the Han nationality in Shiqian County,Guizhou Province.The detailed information was collected from the first-in-law,siblings and their parents in the family.After full informed notification,the peripheral blood was collected and extracted.DNA.The whole exon DNA sequence was captured by the Agilent Sureselect method,and the Illumina sequencer was used for high-throughput sequencing and biological information analysis to detect the exon 1-21 of the gene coding region of ATP7 B in the specimen.Candidate pathogenic genes were verified by Sanger sequencing and compared to 100 healthy children and their mutations were detected by DNA sequencing.The function of the protein in the mutation site was predicted by using REVEL,ClinPred,SIFT,Polyphen2 and CADD prediction software.Results: The whole exome sequencing(WES)and family analysis showed that the family was consistent with Autosomal recessive inheritance(AR).The missense mutation of exon 12 of the proband ATP7 B gene was found to be c.2755C>G(Arg919Gly);the exon 13 missense mutation c.2975C>T(Pro992Leu),the sibling sister has the same mutation;2755C>G mutation inherits its father,c.2975C>T mutation inherits its mother;gene mutation function prediction software shows that ATP7 B c.2755C>G,c.2975C>T mutation has an effect on protein function.The proband was given a low-copper diet,and the condition was improved after treatmentwith d-penicillamine and zinc sulfate.At the same time,his sibling sister was also treated with low-copper diet and oral zinc.Conclusion: Early diagnosis and treatment can be achieved by early gene detection of the proiders and their families.Medical intervention may be provided for asymptomatic members of the family.