A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report - Takeaways - 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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  • 1

    A novel homozygous variant p.(Cys69Ter) in the ATP7B gene was identified in a pediatric patient with Wilson's disease.

  • 2

    The patient, a 12-year-old male, exhibited symptoms of Wilson's disease starting at age 10, including elevated liver enzymes and hepatosplenomegaly.

  • 3

    Initial treatment with glucocorticoids was ineffective, leading to a diagnosis of Wilson's disease after further evaluation.

  • 4

    Whole-genome sequencing confirmed the presence of the c.207C>A mutation in the ATP7B gene, which was not found in the patient's father.

  • 5

    The study highlights the importance of genetic testing in diagnosing rare diseases, particularly in ethnically diverse populations.

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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