ArticleHuman genetics2005
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 87 citations in OpenAlex.
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.Indian journal of pediatrics · 2023Article
- Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.Acta neurologica Belgica · 2022Observational
- Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.Biomedicines · 2021Review
- Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.Current neuropharmacology · 2021Article
- Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner.Journal of cell science · 2020Article
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- Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.Molecular biology reports · 2018Article
- A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.Metallomics : integrated biometal science · 2018Review
- [Diagnostics of Wilson's disease].Der Nervenarzt · 2018Review
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Mutational analysis of ATP7B in Chinese Wilson disease patients.American journal of translational research · 2016Article
- Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.The Indian journal of medical research · 2015Article
- Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.The Indian journal of medical research · 2015Article
- The Pragmatic Treatment of Wilson's Disease.Movement disorders clinical practice · 2014Review
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- Article
- A review and current perspective on Wilson disease.Journal of clinical and experimental hepatology · 2013Review
- Genetics of Wilson's disease: a clinical perspective.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2012Review
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is an autosomal recessive disorder caused by defects in the copper-transporting P-type ATPase gene (ATP7B) resulting in the accumulation of copper in the liver and the brain. We identified prevalent mutations in the ATP7B of Indian WD patients and attempted to correlate those with the disease phenotype. Patients from 62 unrelated families and their first-degree relatives comprising 200 individuals were enrolled in this study. Three dinucleotide repeat markers flanking WD locus and a few intragenic SNPs were used to determine the genotypes and construct haplotypes of the patients. Seven recurring haplotypes accounting for 58% of the total mutant chromosomes were identified, and four underlying defects in the ATP7B representing 37% of WD chromosomes were detected. In addition, five other rare mutations were characterized. Thus a total of nine mutations including five novel changes were identified in the ATP7B of WD patients. Interestingly, homozygotes for different mutations that would be expected to produce similar defective proteins showed significant disparity in terms of organ involvement and severity of the disease. We also observed WD patients with neurological symptoms with little or no manifestation of hepatic pathogenesis. In one WD family, the proband and a sib had remarkably different phenotypes despite sharing the same pair of mutant chromosomes. These findings suggest a potential role for yet unidentified modifying loci for the observed phenotypic heterogeneity among the WD patients.
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