Send to:

Choose Destination
See comment in PubMed Commons below
Dig Liver Dis. 2013 Apr;45(4):342-5. doi: 10.1016/j.dld.2012.10.017. Epub 2012 Dec 7.

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

Author information

  • 1Ospedale Regionale per le Microcitemie, Cagliari, Italy.



Wilson's disease diagnosis is still a challenge for clinicians.


To underline the importance of genetic testing in carrier detection and diagnosis of atypical Wilson's disease cases.


Two families with Wilson's disease in two consecutive generations were analysed with clinical, biochemical and genetic testing.


In one family with triplet siblings, two of whom monozygotic, molecular screening of ATP7B, the gene responsible for Wilson's disease phenotype, allowed detection of 3 disease alleles, the discrimination between carrier and disease state and the postmortem diagnosis of Wilson's disease in the siblings' father. In the second family, molecular analysis detected 3 disease alleles and confirmed the diagnosis of Wilson's disease in two asymptomatic monozygotic twins.


These results demonstrate that mutational analysis is determinant for carrier identification and diagnosis of atypical Wilson's disease patients.

Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk