ArticleAmerican journal of human genetics1997
Haplotype and mutation analysis in Japanese patients with Wilson disease.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 142 citations in OpenAlex.
- Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.Internal medicine (Tokyo, Japan) · 2025Article
- Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis.Internal medicine (Tokyo, Japan) · 2025Article
- Prevalent Pathogenic Variants ofGenes · 2021Article
- Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.Molecular biology reports · 2018Article
- Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.World journal of pediatrics : WJP · 2017Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Gastroenterology research and practice · 2016Article
- Mutational analysis of ATP7B in Chinese Wilson disease patients.American journal of translational research · 2016Article
- Wilson's disease: A review of what we have learned.World journal of hepatology · 2015Article
- Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.The Indian journal of medical research · 2015Article
- Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.BMC medical genetics · 2014Article
- Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.PloS one · 2013Article
- Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.Pediatric gastroenterology, hepatology & nutrition · 2012Review
- A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.Metallomics : integrated biometal science · 2012Article
- A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.Sultan Qaboos University medical journal · 2011Article
- High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.World journal of gastroenterology · 2008Article
- Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.Journal of human genetics · 2008Article
- Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.World journal of gastroenterology · 2007Article
- Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.Molecular and cellular biochemistry · 2007Article
- Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.Journal of molecular medicine (Berlin, Germany) · 2006Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD), an autosomal recessive disorder of copper transport, is characterized by impaired biliary excretion and by impaired incorporation of copper into ceruloplasmin. Toxic accumulation of copper causes tissue damage, primarily in the liver, brain, and kidneys. The gene for WD (ATP7B) has been cloned, and the protein product is predicted to be a copper-transporting P-type ATPase with high amino acid identity with that for Menkes disease, an X-linked disorder of copper transport. Mutation screening in WD patients has led to the identification of at least 40 mutations. In addition, haplotype analysis using three dinucleotide-repeat markers, D13S314, D13S301, and D13S316, has been a useful indicator of specific mutations. We have determined haplotypes for the patients and their parents and sibs, in 21 unrelated WD families from Japan. Twenty-eight different haplotypes were observed on 42 WD chromosomes. In all the patients, the ATP7B coding sequence, including the intron-exon boundaries, was screened for mutations, by SSCP, followed by direct-sequence analysis of the shifted fragments. We identified 13 mutations, of which 11 mutations are novel, including 7 mutations-1 insertion, 4 deletions, and 2 missense mutations-in the coding region. The mutations reported in previous studies are 2299insC and Arg778Leu. Two patients were shown to have the 2299insC mutation, which has occurred in many different haplotypes in several populations, indicating a mutation hot spot. Primer-extension analysis of ATP7B mRNA has revealed multiple transcription start sites. Four of the novel mutations (three 1-bp changes and one 5-bp deletion) occur in the 5' UTR and may result in altered expression of the WD gene.
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