Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

Clinical presentation and mutations in Danish patients with Wilson disease

“…21,29,37 Gu et al 37 found that the age of onset was between 10 and 20 years in 32/37 patients who were homozygous for the p.R778L mutation, in accordance with our classification of p.R778L as Severe. In studies of patient with the p.H1069Q mutation, Vrabelova et al 21 reported the mean age of onset to be 16.2 ± 5.7 years in 94 patients from 75 unrelated families, and Panagiotakaki et al 29 reported 18.7 years ± 6.1 in 13 patients. This is not in conflict with our method, which classified p.H1069Q as severe with age of onset before 20 years of age.…”

“…As in other studies, 21,29,30,33,34 we could not establish a correlation between genotype and clinical presentation. The difficulties may reflect that the phenotype could be modified by an interaction of the mutated ATP7B proteins with other proteins, such as ATOX1 and COMMD1, 35,36 or by environmental factors like exposure to metals, including levels of copper in the diet or drinking water, oxidative stress, and the consumption of alcohol.…”

“…19,20 Although hepatic symptoms generally appeared earlier than neurological, 19,21 we also observed a group of patients with liver disease and late onset (32-39 years), that may have been overlooked in earlier studies.…”

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

“…All the coding exons of ATP7B and their associated splice-site junctions were amplified by the PCR using published primers 7,10 or newly designed primers ( …”

Autoimmune Mimicry Face of Wilson’s Disease

“…At this setting Wilson disease must be specifically excluded because the treatment of the two diseases is entirely different. The H1069Q mutation, which is the most frequent mutation in the United States and northern Europe, has been reported to be associated with later onset of symptoms and less severe disruption of copper metabolism, although not all studies support this assertion (7,8,9). With appropriate treatment, the long-term prognosis for patients with Wilson's disease, mimicking autoimmune hepatitis, appears to be favorable, even if cirrhosis is present.…”