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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.

Citation

Georgios Loudianos, Antonietta Zappu, Maria Barbara Lepori, Simona Incollu, Valentina Dessì, Eva Mameli, Giovanni Garrucciu, Stefano De Virgiliis, Antonio Cao. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 2013 Apr;45(4):342-5

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PMID: 23219664

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