Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses (Articolo in rivista)

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  • Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses (Articolo in rivista) (literal)
Anno
  • 1997-01-01T00:00:00+01:00 (literal)
Alternative label
  • Shah, Anjali B.; Chernov, Igor P.; Zhang, HongTao; Ross, Barbara M.; Das, Kamna; Lutsenko, Svetlana V.; Parano, Enrico; Pavone, Lorenzo; Evgrafov, Oleg Vadimovich; Ivanova-Smolenskaya, Irina A.; Annerén, Göran A.; Westermark, Kerstin M.; Urrutia, Francisco Hevia; Penchaszadeh, Graciela K.; STERNLIEB, Irmin; SCHEINBERG, I. Herbert; Gilliam, Thomas Conrad; Petrukhin, Konstantin E. (1997)
    Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses
    in American journal of human genetics
    (literal)
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  • Shah, Anjali B.; Chernov, Igor P.; Zhang, HongTao; Ross, Barbara M.; Das, Kamna; Lutsenko, Svetlana V.; Parano, Enrico; Pavone, Lorenzo; Evgrafov, Oleg Vadimovich; Ivanova-Smolenskaya, Irina A.; Annerén, Göran A.; Westermark, Kerstin M.; Urrutia, Francisco Hevia; Penchaszadeh, Graciela K.; STERNLIEB, Irmin; SCHEINBERG, I. Herbert; Gilliam, Thomas Conrad; Petrukhin, Konstantin E. (literal)
Pagina inizio
  • 317 (literal)
Pagina fine
  • 328 (literal)
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  • http://www.scopus.com/record/display.url?eid=2-s2.0-16944366995&origin=inward (literal)
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  • 61 (literal)
Rivista
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  • 2 (literal)
Note
  • Scopu (literal)
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  • Columbia University in the City of New York; St. Luke's-Roosevelt Hospital Center; Oregon Health and Science University; Universita degli Studi di Catania; Consiglio Nazionale delle Ricerche; Research Centre for Medical Genetics; Research Center of Neurology, Russian Academy of Medical Sciences; Akademiska Sjukhuset; Hospital San Juan de Dios Costa Rica; Columbia University, College of Physicians and Surgeons; Merck Research Laboratories (literal)
Titolo
  • Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses (literal)
Abstract
  • Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase. A search for ATP7B mutations in WD patients from five population samples, including 109 North American patients, revealed 27 distinct mutations, 18 of which are novel. A composite of published findings shows missense mutations in all exons-except in exons 1-5, which encode the six copper-binding motifs, and in exon 21, which spans the carboxy-terminus and the poly(A) tail. Over one-half of all WD mutations occur only rarely in any population sample. A splice-site mutation in exon 12 accounts for 3% of the WD mutations in our sample and produces an in-frame, 39-bp insertion in mRNA of patients homozygous, but not heterozygous, for the mutation. The most common WD mutation (His1069Glu) was represented in ~38% of all the WD chromosomes from the North American, Russian, and Swedish samples. In several population cohorts, this mutation deviated from Hardy-Weinberg equilibrium, with an overrepresentation of homozygotes. We did not find a significant correlation between His1069Glu homozygosity and several clinical indices, including age of onset, clinical manifestation, ceruloplasmin activity, hepatic copper levels, and the presence of Kayser-Fleischer rings. Finally, lymphoblast cell lines from individuals homozygous for His-1069Glu and 4 other mutations all demonstrated significantly decreased copper-stimulated ATPase activity. (literal)
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