ArticlePloS one2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- Genome-wide association study of molecular markers related to keel length in a specialized strain of yellow feathered broilers.Poultry science · 2026Article
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
- Article
- Clinical and Molecular Analysis ofSultan Qaboos University medical journal · 2025Article
- Current Management of Neurological Wilson's Disease.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Review
- Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.Gastro hep advances · 2025Article
- Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.Biomarker insights · 2024Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.Indian journal of pediatrics · 2023Article
- A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure.ACG case reports journal · 2023Article
- Prevalent Pathogenic Variants ofGenes · 2021Article
- Multiplex PCR-based Sequencing ofJournal of clinical and experimental hepatologyArticle
- 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
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones [p.Ala58fs*19, p.Lys74fs*9, p.Gln281*, p.Pro350fs*12, p.Ser481*, p.Leu735Arg, p.Val752Gly, p.Asn812fs*2, p.Val845Ala, p.His889Pro, p.Ile1184fs*1, p.Val1307Glu and p.Ala1339Pro], were identified in 76/102 families. Interestingly, the mutation analysis of affected individuals in two families identified two different homozygous mutations in each family, and thus each affected individual from these families harbored two mutations in each ATP7B allele. Of 36 mutations, 28 were missense, thus making them the most prevalent mutations identified in the present study. Nonsense, insertion and deletion represented 3/36, 2/36 and 3/36 mutations, respectively. The haplotype analysis suggested founder effects for all the 14 recurrent mutations. Our study thus expands the mutational landscape of ATP7B with a total number of 758 mutations. The mutations identified during the present study will facilitate carrier and pre-symptomatic detection, and prenatal genetic diagnosis in affected families.
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