AIM To determine the phenotypes and predominant disease-causing mutations in Lebanese patients with Wilson's disease, as compared to regional non-European data. METHODS The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular testing. All patients underwent full physical exam, including ophthalmologic slit-lamp examination ultrasoun...

Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...

Diagnosis of Wilson's disease (WD) still remains a challenge since no single test has an accuracy of 100%. Molecular testing for ATP7B gene mutations can help reach the diagnosis when routine testing is equivocal. We herein report an asymptomatic WD patient diagnosed accidentally by genetic analysis. Th is case suggests that WD is a challenge even in particular contexts such as family screening...

Platinum (Pt)-based antitumor agents have been the mainstay of cancer chemotherapy for the last three decades. While multiple mechanisms are responsible for treatment failure, deficiency in drug transport is an important contributor. The human high-affinity copper (Cu) transporter-1 (hCtr1) can also transport Pt-based drugs including cisplatin (cDDP) and carboplatin. Reduced hCtr1 expression fr...

OBJECTIVE The objective of this study was to review the research on clinical genetics of Wilson's disease (WD). DATA SOURCES We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype. STUDY SELECTION Publications about the ATP7B gene and protein function ass...

As a relatively polar molecule, CDDP is thought to use specific plasma membrane systems for passage into cells, although entry by passive diffusion is also likely to occur. Alterations in these plasma membrane systems have been considered to be important resistance factors because one of the most consistent features of CDDP-resistant cell lines is decreased intracellular drug levels (1). Wherea...

To the Editor: Drs. Lam and Mak, in a recent article in this journal (1 ), described the mechanisms leading to allele dropout in the PCR-based diagnosis of Wilson disease (WD) and reported potential solutions to this problem. We propose 2 strategies that would enable unequivocal and rapid identification of allele dropout in WD. In WD, an autosomal recessive disorder, mutations in the ATP7B gene...

Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon amplification since the normal allele will mask its presence. The aim of the present work was to s...