Backgrounds and aims Wilson disease (WD) is an autosomal recessive disorder of copper transport, ATP7B, the gene mutated in WD, consists of 21 exons and encodes a 1,465 amino acid protein representing a copper transporting P-type adenosine triphosphatase (ATPase). Our aim was to evaluate His1069Gln mutation in exon 14 of ATP7B gene as a useful tool in genetic counseling.
Methods This study was conducted on 20 index cases with WD (group I) and their siblings (group II, n = 27), 47 apparently healthy children as control group (group III). Diagnosis of WD was made if the patient had hepatic and/ or neurologic disease in addition to at least two of the following six criteria: Positive family history of WD, Low ceruloplasmin level <20 mg/dl., Presence of kyser- Fleisher ring, Liver biopsy suggestive of WD, Elevated 24 hour urinary copper excretion and finally Coomb’s negative hemolytic anemia. Molecular testing for ATP7B (His1069Gln) done by PCR based on restricted fragment length polymorphism assay.
Results It was found that the frequency of the His1069Gln gene mutation was 25% among index cases group, 14.8% among siblings of the index group. As regard genotype- phenotype association there was no statistically significant difference between different types of disease phenotype regarding the mean age of onset, gender and presence of ATP7B gene mutation.
Conclusions The His1069Gln of ATP7B gene mutation could be used as a detection tool for WD in high risk population.