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Updated: Jul 15, 2025

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Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

Kensuke Daida1,2,3, Manabu Funayama3,4, Kimberley J Billingsley5

  • 1Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Medrxiv : the Preprint Server for Health Sciences
|October 4, 2023
PubMed
Summary

Parkinson's disease (PD) is often caused by PRKN mutations. This study identified a large 7Mb inversion in PRKN using long-read sequencing, revealing a novel cause for young-onset PD.

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