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

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

  • 0 min

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Clinical Report: Identification of a unique homozygous variant in the ATP7B gene

Overview

{'add': "Include patient's age at diagnosis and timeline of symptoms."}

Background

{'add': 'More details on clinical variability and population-specific variants.'}

Data Highlights

{'edit': 'Ensure table format is consistent and add reference ranges.'}

Key Findings

{'add': 'Details on treatment implications of the identified variant.'}

Clinical Implications

{'add': 'Specific genetic tests to consider.'}

Conclusion

{'add': 'Impact on future research and clinical practice.'}

References

  1. EASL-ERN Clinical Practice Guidelines on Wilson’s disease, ScienceDirect, 2025 -- Diagnostic approach and genetic context
  2. Investigational Agent ALXN1840 Demonstrates Superior Efficacy to Standard of Care in Wilson Disease, NeurologyLive, 2023 -- Treatment consensus and comparative effectiveness
  3. Acta Neuropathologica — Response: Variants in ATP10B Associated with Parkinson’s Disease in a Large Cohort from Mainland China
  4. Acta Neuropathologica — Altered ATP10B Gene Elevates Risk for Parkinson's Disease by Disrupting Glucosylceramide Export from Lysosomes
  5. Brain — Biallelic Variants in PTPMT1 Impair Cardiolipin Metabolism, Resulting in a Neurodevelopmental Disorder
  6. Acta Neuropathologica — Neuropathological and Neuroanatomical Investigation of Rapid-Onset Dystonia-Parkinsonism Linked to the I758S Mutation in the ATP1A3 Gene in Four Siblings
  7. EASL-ERN Clinical Practice Guidelines on Wilson’s disease - ScienceDirect
  8. Investigational Agent ALXN1840 Demonstrates Superior Efficacy to Standard of Care in Wilson Disease | NeurologyLive - Clinical Neurology News and Neurology Expert Insights

Original Source(s)

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

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