High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype–genotype analysis

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

“…These findings confirm previous data on correlation of the c.3207C>A mutation and the disease onset 11,17 . On the other hand, we could not detect an association of the c.3207C>A mutation with predominantly neurological manifestations, as described by Caca et al…”

“…Its frequency is highest in Poland and eastern Germany and decreases to the western and to the southern European countries 9 . The high rate of occurrence of this mutation in central and eastern Europe probably reflects the origin of this mutation in this very area 11 . In Mediterranean countries there is a wide range of mutations, the frequency of each of them varies considerably from country to country 9 .…”

PCR in Disease Diagnosis of WND

“…The most common mutation found in Europe, American and Greece population was H1069Q in exon 14. About 50-80% of WND patients from these countries carry at least one allele with this mutation with an allele frequency ranging between 30 and 70% [28,31,32]. Mutational analysis of ATP7B gene has been extensively carried out in Chinese population and showed a high prevalence of WND.…”

International Journal of Biology, Vol. 2, No. 1, January 2010, all in one file

“…Investigation of genotype-phenotype correlations in WND is impeding by a variety of factors. The frequency of most mutations is low and initial symptoms of WND may be nonspecific and will not be easily recognized, resulting in a considerable diagnostic delay and imprecise clinical data (Caca et al, 2001). Therefore molecular genetic testing is a powerful tool for pre-symptomatic diagnose and proper treatment of this disease.…”