@article{3131860,
    title = "High incidence and allelic homogeneity of wilson disease in 2 isolated populations: A prerequisite for efficient disease prevention programs",
    author = "Antonietta, Z. and Olympia, M. and Lepori, M.B. and Valentina, D. and Stefania, D. and Simona, I. and Emmanuel, K. and Polyxeni, N. and Nina, M. and Andreas, F. and Stefano, D.V. and Antonio, C. and Georgios, L.",
    journal = "Journal of Pediatric Gastroenterology and Nutrition,",
    year = "2008",
    volume = "47",
    number = "3",
    pages = "334-338",
    issn = "0277-2116",
    doi = "10.1097/MPG.0b013e31817094f6",
    keywords = "allele;  article;  cell free system;  chromosome mutation;  controlled study;  drug screening;  gene frequency;  Greece;  health education;  heterozygosity;  human;  human cell;  human tissue;  incidence;  kidney homogenate;  liver homogenate;  mutation;  mutation rate;  priority journal;  screening test;  Wilson disease;  female;  gene deletion;  genetic predisposition;  genetic screening;  genetics;  genotype;  Greece;  heterozygote detection;  Italy;  male;  metabolism;  mutation;  newborn;  newborn screening;  nucleotide sequence;  population genetics;  risk factor;  single strand conformation polymorphism;  Wilson disease, ceruloplasmin;  copper, Ceruloplasmin;  Copper;  DNA Mutational Analysis;  Female;  Gene Frequency;  Genetic Predisposition to Disease;  Genetic Screening;  Genetics, Population;  Genotype;  Greece;  Hepatolenticular Degeneration;  Heterozygote Detection;  Humans;  Incidence;  Infant, Newborn;  Italy;  Male;  Mutation;  Neonatal Screening;  Polymorphism, Single-Stranded Conformational;  Risk Factors;  Sequence Deletion",
    abstract = "Objectives: Herein we report the results of mutation-based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek island of Kalymnos. Patients and Methods: Mutation analysis was performed in 110 and 9 WD families originating respectively from Sardinia and Kalymons using single-strand conformation polymorphism and sequencing methods. In Sardinia, a limited screening was performed for -441/-427del in 5290 newborns, whereas in Kalymnos 397 newborns underwent mutation screening for H1069Q and R969Q using appropriate methods. Results: In Sardinia, mutation analysis showed the presence of 6 mutations accounting for 85% of chromosomes, 1 of which (-441/-427del) is present in 61.7% of alleles. The screening for -441/-427del in 5290 newborns revealed the presence of 122 heterozygotes, which is equal to an allelic frequency of 1.15%. Assuming the same distribution of WD mutations in the general Sardinian population, we also inferred an allelic frequency of 0.77% for mutations other than -441/-427del, which accounts for an overall frequency of any WD mutation of 1.92%. Assuming Hardy-Weinberg equilibrium, these data could be translated into a WD incidence of 1 in 2707 live births. In Kalymnos, mutation analysis in 9 WD families revealed the presence of only 2 mutations. The screening of 397 newborns revealed the presence of 18 heterozygotes for H1069Q, 9 for R969Q, and 1 compound heterozygote for these mutations, which is equal to an allele frequency of 3.7%. Assuming Hardy-Weinberg equilibrium, the expected carrier rate is 7%. Conclusions: These data indicate the need for health education for WD prevention in these isolated populations. © 2008 by Lippincott Williams & Wilkins."
}