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Genetics
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing
  1. Amy Backal,
  2. Milen Velinov,
  3. Jazmin Garcia and
  4. Cassandra L Louis
  1. Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
  1. Correspondence to Dr Cassandra L Louis; louiscl{at}rwjms.rutgers.edu

Abstract

Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, ‘kinky’ hair, connective tissue dysfunction and developmental regression after 2–3 months of age. The primary variant associated with Menkes is in the ATP7A gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the ATP7A gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.

  • Genetics
  • Congenital disorders
  • Pediatrics
  • Paediatric intensive care

https://doi.org/10.1136/bcr-2024-259792

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: CLL, MV and JG were responsible for overseeing the preparation of the manuscript and the integrity of the content. They were imperative for the critical revision of clinical and intellectual content. AB was responsible for the drafting, sourcing and editing of the text and clinical information. The following authors gave final approval of the manuscript: CLL, MV, JG, AB.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.