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A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2

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A Correction to this article was published on 01 January 2002

Abstract

We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W)1. We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.

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Figure 1: a, Association of repeat expansion with disease phenotype.
Figure 2: Localization of the HDL2 CTG repeat to the JPH3l ocus.

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Acknowledgements

We would like to thank our patients and their family members for their gracious cooperation with this study. We thank C. Boehm for control DNA samples, P.R. McHugh for essential support and advice and D. Pollard and M. Sonderman for administrative assistance. This work was supported in part by National Institutes of Health grants NS16375 and NS38054 and by grants from the Hereditary Disease Foundation, the Huntington's Disease Society of America and the Theodore and Vada Stanley Foundation.

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Authors and Affiliations

  1. Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Susan E. Holmes, Adam Rosenblatt, Colleen Callahan, Hyon S. Hwang, Christopher A. Ross & Russell L. Margolis

  2. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Elizabeth O'Hearn

  3. Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Elizabeth O'Hearn & Adam Fleisher

  4. Institute of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Roxann G. Ingersoll-Ashworth & Christopher A. Ross

  5. INSERM U289, Hôpital de la Salpêtrière, Paris, France

    Giovanni Stevanin & Alexis Brice

  6. Department of Medical Genetics, University of Tennessee Medical Center, Knoxville, Tennessee, USA

    Nicholas T. Potter

  7. Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, 21287, Maryland, USA

    Christopher A. Ross & Russell L. Margolis

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  1. Susan E. Holmes
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  2. Elizabeth O'Hearn
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  3. Adam Rosenblatt
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  4. Colleen Callahan
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  5. Hyon S. Hwang
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  6. Roxann G. Ingersoll-Ashworth
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  7. Adam Fleisher
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  8. Giovanni Stevanin
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  9. Alexis Brice
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  10. Nicholas T. Potter
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  11. Christopher A. Ross
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  12. Russell L. Margolis
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Correspondence to Russell L. Margolis.

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Holmes, S., O'Hearn, E., Rosenblatt, A. et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2. Nat Genet 29, 377–378 (2001). https://doi.org/10.1038/ng760

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