The Wilson disease gene: spectrum of mutations and their consequences
- 1 February 1995
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 9 (2) , 210-217
- https://doi.org/10.1038/ng0295-210
Abstract
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease. We have now identified in 58 WND patients, 20 new mutations as well as three of five previously published mutations: 11 small insertions and deletions, seven missense, two nonsense and three splice site mutations. Two of the mutations are relatively frequent, representing 38% of the mutations in patients of European origin. Our findings suggest a wider spectrum of age of onset than is considered typical of Wilson disease: mutations that completely disrupt the gene can produce liver disease in early childhood when Wilson disease may not typically considered in the differential diagnosis. The mutations identified provide an explanation for at least part of the wide phenotypic variation observed in Wilson disease.Keywords
This publication has 18 references indexed in Scilit:
- Wilson disease and Menkes disease: new handles on heavy-metal transportPublished by Elsevier ,2002
- Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictionsHuman Molecular Genetics, 1994
- The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease geneNature Genetics, 1994
- DNA markers for the diagnosis of Wilson diseaseJournal of Hepatology, 1993
- The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes geneNature Genetics, 1993
- Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPaseNature Genetics, 1993
- Isolation of a partial candidate gene for Menkes disease by positional cloningNature Genetics, 1993
- Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinNature Genetics, 1993
- Metabolic rates of minke whales (Balaenoptera acutorostrata) in cold waterActa Physiologica Scandinavica, 1992
- Indian childhood cirrhosis.Archives of Disease in Childhood, 1981