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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.

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  • 1Ospedale Regionale per le Microcitemie, Cagliari, Italy. gloudian@mcweb.unica.it

Abstract

BACKGROUND:

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

AIM:

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

METHODS:

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

RESULTS:

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.

CONCLUSION:

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.

PMID:
23219664
[PubMed - indexed for MEDLINE]
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