Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep;39(9):1647-1648.
doi: 10.1002/mds.29914. Epub 2024 Jun 28.

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease

Guillaume Cogan  1   2   3   4 , Kensuke Daida  1   2 , Kimberley J Billingsley  1   2 , Christelle Tesson  3 , Sylvie Forlani  3 , Ludmila Jornea  3 , Lionel Arnaud  4 , Laurène Tissier  4 , Eric LeGuern  4 , Andrew B Singleton  1   2 , Mélanie Ferrien  3 , Hélène Gervais Bernard  5 , Suzanne Lesage  3 , Cornelis Blauwendraat  1   2 , Alexis Brice  3
Affiliations

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease

Guillaume Cogan et al. Mov Disord. 2024 Sep.
No abstract available

Keywords: PRKN; Parkinson's disease; long‐read sequencing.

PubMed Disclaimer

Conflict of interest statement

Relevant conflicts of interest/financial disclosures :

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
(A) Family pedigree and PRKN genotype of the affected siblings (black symbols). The pedigree suggested an autosomal recessive inheritance. Both siblings have two compound heterozygous structural variants: exon 3–4 deletion and exon 3 duplication. (B) Integrative Genome Viewer screenshot of individual II-2 long-read sequencing presenting exon 3–4 deletion (red) and exon 3 duplication in PRKN (blue).
See this image and copyright information in PMC

Update of

References

    1. Kilarski LL, Pearson JP, Newsway V, et al. Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson’s disease. Mov Disord Off J Mov Disord Soc. 2012;27(12):1522–1529. doi: 10.1002/mds.25132 - DOI - PubMed
    1. Menon PJ, Sambin S, Criniere-Boizet B, et al. Genotype-phenotype correlation in PRKN-associated Parkinson’s disease. NPJ Park Dis. 2024;10(1):72. doi: 10.1038/s41531-024-00677-3 - DOI - PMC - PubMed
    1. Lesage S, Lunati A, Houot M, et al. Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Ann Neurol. 2020;88(4):843–850. doi: 10.1002/ana.25787 - DOI - PMC - PubMed
    1. Daida K, Funayama M, Billingsley KJ, et al. Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson’s Disease. Mov Disord Off J Mov Disord Soc. 2023;38(12):2249–2257. doi: 10.1002/mds.29610 - DOI - PMC - PubMed