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Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease

✍ Scribed by Muriel Bost; Alain Lachaux; Michèle Accominotti; Antoon Vandenberghe

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
36 KB
Volume
12
Category
Article
ISSN
0896-548X

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✦ Synopsis

Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defective in this affection. In this study, we performed DNA haplotype analysis using five polymorphic microsatellite markers (D13S295, D13S314, D13S301, D13S296, D13S316) flanking the WD locus, mutational screening on 10 exons (5,7,8,9,12,14, 15, 17, 18, 19) by SSCP and direct sequencing in 32 WD families with hepatic and/or neurologic forms. We found nine mutations (two frameshifts, one nonsense, five missense mutations, and one in an intron), four of which were novel. The data were used to make presymptomatic diagnosis and detect carriers among siblings in the pedigrees concerned, improving genetic counselling and disease management. In addition, we tried to find a genotype-phenotype correlation in our patients. J. Trace Elem. Exp. Med. 12:321-329, 1999.

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