ArticleMolecular and cellular biochemistry2007
Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
Article in Molecular and cellular biochemistry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 42 citations in OpenAlex.
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- Monitoring of Copper in Wilson Disease.Diagnostics (Basel, Switzerland) · 2023Review
- Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.Indian journal of pediatrics · 2023Article
- Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.BMC gastroenterology · 2021Article
- A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.Journal of musculoskeletal & neuronal interactions · 2020Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson's disease.Journal of cellular and molecular medicine · 2015Article
- Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.Cellular and molecular neurobiology · 2007Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity. A total of 33 WD patients and their family members from North West states of India were examined. The H1069Q, R778W and R778L mutations were absent in these WD patients. R778W and I1102T mutations were present in 36% of WD patients. Family analysis for these mutations using PCR-RFLP documented 5 carriers and 2 asymptomatic WD patients. The copper ATPase activity in WD patients was significantly reduced (50%) than that of control individuals. No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. Serum ceruloplasmin, serum copper levels were significantly lower in homozygous WD patients than that of compound heterozygous. However, no significant difference was observed in liver copper contents between heterozygous and homozygous patients. In conclusion, the data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous.
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