ArticleCellular and molecular neurobiology2007
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Article in Cellular and molecular neurobiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 43 citations in OpenAlex.
- 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
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.Molecular genetics and metabolism reports · 2023Article
- Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.Acta neurologica Belgica · 2022Observational
- Article
- Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.Journal of gastroenterology · 2021Article
- Population screening and diagnostic strategies in screening family members of Wilson's disease patients.Annals of translational medicine · 2019Review
- Article
- Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.Molecular biology reports · 2018Article
- Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.Medicine · 2018Observational
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Wilson's disease: a comprehensive review of the molecular mechanisms.International journal of molecular sciences · 2015Review
- Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.The Indian journal of medical research · 2015Article
- Concordance rates of Wilson's disease phenotype among siblings.Journal of inherited metabolic disease · 2014Article
- The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.BMC pediatrics · 2012Article
- Wilson's Disease Update: An Indian Perspective.Annals of Indian Academy of NeurologyArticle
- Wilson's Disease Update: An Indian Perspective.Annals of Indian Academy of NeurologyArticle
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsWe aim to identify the molecular defects in the ATP7B, the causal gene for Wilson disease (WD), in eastern Indian patients and attempt to assess the overall mutation spectrum in India for detection of mutant allele for diagnostic purposes.
methodsPatients from 109 unrelated families and their first-degree relatives comprising 400 individuals were enrolled in this study as part of an ongoing project. Genomic DNA was prepared from the peripheral blood of Indian WD patients. PCR was done to amplify the exons and flanking regions of the WD gene followed by sequencing, to identify the nucleotide variants.
resultsIn addition to previous reports, we recently identified eight mutations including three novel (c.3412 + 1G > A, c.1771 G > A, c.3091 A > G) variants, and identified patients with variable phenotype despite similar mutation background suggesting potential role of modifier locus.
conclusionsSo far we have identified 17 mutations in eastern India including five common mutations that account for 44% of patients. Comparative study on WD mutations between different regions of India suggests high genetic heterogeneity and the absence of a single or a limited number of common founder mutations. Genotype-phenotype correlation revealed that no particular phenotype could be assigned to a particular mutation and even same set of mutations in different patients showed different phenotypes.
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