To report a novel homozygous variant in the ATP7B gene in a pediatric patient diagnosed with Wilson's disease, highlighting its significance in genetic diagnosis.
Key Findings:
The patient exhibited elevated liver enzymes and reduced ceruloplasmin levels consistent with Wilson's disease, particularly in the context of his Shor ethnicity.
A novel homozygous variant p.(Cys69Ter) in the ATP7B gene was identified.
The variant was heterozygous in the patient's mother, indicating potential carrier status.
Interpretation:
The identification of a novel variant in the ATP7B gene enhances understanding of genetic factors in Wilson's disease, particularly in underrepresented populations, and may inform future genetic screening.
Limitations:
The patient's father was deceased, limiting familial genetic analysis and understanding of inheritance patterns.
Siblings opted out of genetic testing, leaving potential carrier status unconfirmed.
Conclusion:
This case highlights the importance of genetic testing in diagnosing Wilson's disease, especially in populations with unique genetic backgrounds, to facilitate early intervention.
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
