NDLI: Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Content Provider	Springer Nature : BioMed Central
Author	Daneshjoo, Omid Garshasbi, Masoud
Abstract	Background Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. Case presentation In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon–intron boundaries with polymerase chain reaction and sequencing. We identified c.1924G>C and c.3809A>G mutations in affected members as compound heterozygote state. These mutations segregated with the disease in the family and they were absent in a cohort of 100 Iranian ethnicity-matched healthy controls. Conclusions No homozygote state has been reported for these two variants in public databases. In silico predicting tools consider these two variants to be damaging. So this study introduces the novel combination of c.1924G>C and c.3809A>G variants as a cause for Wilson disease.
Related Links	https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-018-1608-0.pdf
Ending Page	7
Page Count	7
Starting Page	1
File Format	HTM / HTML
ISSN	17521947
DOI	10.1186/s13256-018-1608-0
Journal	Journal of Medical Case Reports
Issue Number	1
Volume Number	12
Language	English
Publisher	BioMed Central
Publisher Date	2018-03-15
Access Restriction	Open
Subject Keyword	Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine ATP7B gene Wilson disease Compound heterozygote Sequencing Medicine/Public Health
Content Type	Text
Resource Type	Case study
Subject	Medicine
Journal Impact Factor	0.9/2023

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