A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report
By
Valentina E. Shavrak
Irina Z. Zhalsanova
Elizaveta A. Fonova
Daria N. Erburova
Nikita A. Kolesnikov
Sergei S. Fomenko
Valeria V. Petrova
Gulnara N. Seitova
Vadim A. Stepanov
Nikolay A. Skryabin
May 4, 2026
Clinical Scorecard: Identification of a unique homozygous variant in the ATP7B gene in a pediatric case of Wilson’s disease: a case study
At a Glance
Category Detail
Condition Wilson's Disease Key Mechanisms Autosomal recessive condition due to pathogenic variants in the ATP7B gene leading to copper accumulation. Target Population Pediatric patients, particularly those from smaller ethnic groups with higher rates of inbreeding. Care Setting Genetics Clinic, Research Institute of Medical Genetics
Key Highlights
Novel homozygous variant p.(Cys69Ter) identified in ATP7B gene. Initial symptoms included elevated liver enzymes and hepatosplenomegaly. Diagnosis confirmed using Leipzig diagnostic scoring system. D-penicillamine treatment initiated after glucocorticoid therapy failure. Significant clinical variability complicates diagnosis. Guideline-Based Recommendations
Diagnosis
Utilize the Leipzig diagnostic scoring system for Wilson's disease. Management
Initiate treatment with D-penicillamine in confirmed cases. Monitoring & Follow-up
Regular monitoring of liver function tests and urinary copper excretion. Risks
Potential for hepatic failure and neurological complications if untreated. Patient & Prescribing Data
Pediatric patients with Wilson's disease.
D-penicillamine is effective in managing copper overload.
Clinical Best Practices
Conduct thorough genetic testing for ATP7B variants in suspected cases. Monitor for signs of liver dysfunction and neurological involvement. Consider ethnic background in assessing risk for rare genetic variants. References
