Wilson Disease

Abstract

T he Wilson Disease Mutation Database (1) records >300 mutations in the ATP7B gene. Although H1069Q and R778L are relatively common mutant alleles in European and Asian populations, respectively, studies of Wilson disease (WD) from most countries have shown a large number of mutations, many patients being compound heterozygotes. In 3 island populations, however, a more homogeneous situation has been found. In Sardinia, the À441/À427 deletion in the promoter region accounts for 62% of alleles (2). In the Greek island of Kalymnos, only 2 mutations were found, H1069Q and R969Q (2). In Gran Canaria, Garcı ´a-Villarreal et al (3) found a high prevalence of WD and a high prevalence of the Leu708Pro (c.2123T>C) mutation in exon 8 of ATP7B, affecting the 3rd transmembrane region of ATP7B.In the present issue of the journal, Pen ˜a-Quintana et al (4) report on 11 paediatric patients from Gran Canaria, 4 homozygous and 5 heterozygous for L708P. What can the study of such genetically isolated populations teach us about WD?