Wilson’s Disease Clinical Gastroenterology and Hepatology

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Wilson’s Disease Clinical Gastroenterology and Hepatology Peter Ferenci Clinical Gastroenterology and Hepatology Volume 3, Issue 8, Pages 726-733 (August 2005) DOI: 10.1016/S1542-3565(05)00484-2 Copyright © 2005 American Gastroenterological Association Terms and Conditions

Figure 1 Model of hepatobiliary copper transport. For details see text. CTR1, copper transporter 1; MT, metallothionein; CPL, ceruloplasmin; ATOX, Sco1, Sco2, CCS, copper chaperones; Murr 1, protein that binds to ATP7B and is involved in the transfer of copper into vesicles. Clinical Gastroenterology and Hepatology 2005 3, 726-733DOI: (10.1016/S1542-3565(05)00484-2) Copyright © 2005 American Gastroenterological Association Terms and Conditions

Figure 2 Schematic representation of ATP7B and the sites of the most common mutations. The numbers indicate the exons; C, copper binding. Clinical Gastroenterology and Hepatology 2005 3, 726-733DOI: (10.1016/S1542-3565(05)00484-2) Copyright © 2005 American Gastroenterological Association Terms and Conditions

Figure 3 Application of mutation analysis by a polymerase chain reaction-based rapid test for the H1069Q mutation for screening of large families (from reference 24). An asymptomatic affected sibling and several heterozygotes were detected, even if first-degree relatives were not available for testing (shaded gray). Clinical Gastroenterology and Hepatology 2005 3, 726-733DOI: (10.1016/S1542-3565(05)00484-2) Copyright © 2005 American Gastroenterological Association Terms and Conditions

Figure 4 Application of haplotype analysis in family screening. The size of the polymorphic di-nucleotide microsatellite D13S301 was determined on an ABIII Prism 310 Genetic Analyzer (Perkin Elmer, Norwalk, CT). The index case was an 18-year-old woman who underwent transplantation because of fulminant WD. Her younger brother was asymptomatic, with normal blood chemistry (including ALT and ceruloplasmin) and undetectable Kayser Fleischer rings. Diagnosis of WD was confirmed by measurement of liver copper content. The genotypes of the parents are shown. Her 2 other brothers carried both normal alleles (not shown). Clinical Gastroenterology and Hepatology 2005 3, 726-733DOI: (10.1016/S1542-3565(05)00484-2) Copyright © 2005 American Gastroenterological Association Terms and Conditions