Abstract
In this study, we report the results of haplotype and mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analysed 25 WD families and two single patients and characterised 94% of the WD chromosomes investigated. We have found 12 different molecular defects (three frameshifts, two splice site, two nonsense, five missense mutations), four of which are novel. Five of the mutations are widely prevalent accounting for 74% of the WD chromosomes analysed. These results may enable preclinical diagnosis in the large majority of WD patients of Greek descent, thereby improving genetic counselling and disease management.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Loudianos, G., Dessì, V., Lovicu, M. et al. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet 6, 487–491 (1998). https://doi.org/10.1038/sj.ejhg.5200219
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200219
Keywords
This article is cited by
-
Screening of Wilson’s disease in a psychiatric population: difficulties and pitfalls. A preliminary study
Annals of General Psychiatry (2017)
-
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation
Journal of Human Genetics (2011)
-
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
Journal of Human Genetics (2008)
-
Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic Onset
Digestive Diseases and Sciences (2007)
-
A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia
Digestive Diseases and Sciences (2006)