ArticleHepatitis monthly2011
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Article in Hepatitis monthly, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- The global prevalence of Wilson disease from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.Frontiers in neurology · 2025Article
- Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.Biomedicines · 2024Article
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- The mutation spectrum and ethnic distribution of Wilson disease, a review.Molecular genetics and metabolism reports · 2024Review
- Epidemiology of Wilson's Disease and Pathogenic Variants of theInternational journal of molecular sciences · 2024Review
- Circulating non-coding RNAs as potential diagnostic biomarkers in liver diseases.Gastroenterology and hepatology from bed to bench · 2021Review
- Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.Journal of medical case reports · 2018Article
- Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.World journal of gastroenterology · 2017Observational
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.Hepatitis monthly · 2013Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain.
objectivesWe examined the ATP7B mutation spectrum in Wilson disease patients in Iran. PATIENTS AND
methodsGenomic DNA was extracted from patients with Wilson disease. The entire coding region of the ATP7B gene was amplified using PCR and analyzed using direct sequencing.
resultsWe identified five novel mutations in 5 Iranian patients with Wilson disease. The first was a transversion, c.2363C > T, which led to an amino acid change from threonine to isoleucine. The second mutation was a deletion, c.2532delA (Val845Ser), which occurred in exon 10. The third mutation was a transition mutation, c.2311C > G (Leu770Leu), which occurred in the TM4 domain of the ATP7B protein. The fourth mutation was a transversion, (c.3061G > A) (Lys1020Lys), in exon 14. Lastly, we identified a transversion, c.3206C > A (His1069Asn) in exon 14 which led to a change in function of the ATP loop domain of the ATP7B protein. The H1069Q mutation was identified as the most common mutation in our study population.
conclusionsBased on our findings, the H1069Q may be a biomarker that can be used in a rapid detection assay for diagnosing WD patients.
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