الفهرس 
A study of Wilson disease-related ATP7B gene variations in Egyptian children
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Abstract
Wilson disease (WD) is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase (ATPase) encoded by the ATP7B gene. This enzyme involved in copper excretion, as its defect results in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early.As the gene has long coding sequence and analysis for mutations with Sanger sequencing costs time and effort; Searching for other rapid screening method is mandatory.The objective of this study was to detect mutations in ATP7B gene in the WD Egyptian children using high resolution melt analysis (HRMA) as a screening method and sequencing as a confirmatory gold standard method; Also, to evaluate the agreement among these two diagnostic tests. Blood collected for genomic DNA extraction from 39 patients diagnosed with WD. All samples were subjected to HRMA for 9 exons (5, 8, 10, 11, 13, 14, 16, 18, and 19) of the ATP7B gene then followed by direct DNA sequencing for all cases of exon 14 and some cases of the other exons.We found that exons 13, 14 and 18 are hotspots for Egyptian population. Statistical analysis with McNemar test was p=0.034 denoting significant disagreement between both methods in all exons. Cohen{u2019}s kappa was 0.085, which indicates poor agreement. The current study does not support the use of HRMA in screening the ATP7B gene. The only valuable tool is performing direct sequence analysis for this particular gene region