Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication
نویسندگان
چکیده
Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion out of the liver. Defects in ATP7B lead to excess of copper in various organs primarily in liver. The diagnosis of WND is more complex due to variations in its biochemical and clinical features and the broad range of disease onset. The objective of the present study was to establish molecular analysis system for screening of Wilson disease in Pakistani population. Three mutations were identified; with one being is a novel mutation never reported before.
منابع مشابه
Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...
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Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...
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Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...
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متن کاملMolecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7B Gene Mutation at Codon 778 in Southwest Iran
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to 500 mutat...
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