Source:http://linkedlifedata.com/resource/pubmed/id/18373411
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2008-3-31
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| pubmed:abstractText |
Wilson disease (WND), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. ATP7B encodes a copper transporting P-type ATPase involved in the transport of copper into the plasma protein ceruloplasmin, and for excretion of copper from the liver. Defects in ATP7B lead to copper storage in liver, brain and kidney. Mutation analysis was carried out on 300 WND patients of various origins, and new mutations not previously reported were identified: European white (p.L217X, c.918_931, c.1073delG, c.3082_3085delAAGAinsCG, p.V536A, p.S657R, p.A971V, p.T974M, p.Q1004P, p.D1164N, p.E1173G, p.I1230V, p.M1359I, c.2355+4A>G), Sephardic Jewish (p.Q286X), Filipino (p.G1149A), Lebanese (p.R1228T), Japanese (p.D1267V) and Taiwanese (p.A1328T). All but one missense variant have strong evidence for classification as disease-causing mutations. In the patients reported here, we also identified 20 nucleotide substitutions, six not previously reported, which cause silent amino acid changes or intronic changes. Documentation and characterization of all variants is essential for accurate DNA diagnosis in WND because of the wide range of clinical and biochemical variability.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/5' Untranslated Regions,
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases,
http://linkedlifedata.com/resource/pubmed/chemical/Cation Transport Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense,
http://linkedlifedata.com/resource/pubmed/chemical/Wilson disease protein
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| pubmed:status |
MEDLINE
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| pubmed:month |
Mar
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| pubmed:issn |
1090-6576
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
12
|
| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
139-45
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:18373411-5' Untranslated Regions,
pubmed-meshheading:18373411-Adenosine Triphosphatases,
pubmed-meshheading:18373411-Amino Acid Substitution,
pubmed-meshheading:18373411-Cation Transport Proteins,
pubmed-meshheading:18373411-Codon, Nonsense,
pubmed-meshheading:18373411-DNA Mutational Analysis,
pubmed-meshheading:18373411-Exons,
pubmed-meshheading:18373411-Genetic Variation,
pubmed-meshheading:18373411-Genotype,
pubmed-meshheading:18373411-Hepatolenticular Degeneration,
pubmed-meshheading:18373411-Humans,
pubmed-meshheading:18373411-Introns,
pubmed-meshheading:18373411-Models, Molecular,
pubmed-meshheading:18373411-Mutation,
pubmed-meshheading:18373411-Mutation, Missense,
pubmed-meshheading:18373411-Phenotype,
pubmed-meshheading:18373411-Protein Conformation,
pubmed-meshheading:18373411-Sequence Deletion
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| pubmed:year |
2008
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| pubmed:articleTitle |
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
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| pubmed:affiliation |
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|