A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report

In this article, we describe a case of a novel variant of the ATP7B gene identified in a boy of Short ethnicity with Wilson’s disease (WD). Wilson’s disease is a chronic autosomal recessive disorder caused by pathogenic variants in the ATP7B gene. The patient’s first symptoms appeared at age 10 and included persistently elevated aspartate aminotransferase and alanine aminotransferase levels, decreased ceruloplasmin levels, diffuse liver parenchymal changes, and hepatosplenomegaly. Three months later, due to the ineffectiveness of glucocorticoid therapy, a presumptive diagnosis of Wilson’s disease was made. At age 11, the patient was admitted to the clinical department of the Research Institute of Medical Genetics. One year later, a novel variant p.(Cys69Ter) was identified in a homozygous state in exon 2 of the ATP7B gene.