A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 (original) (raw)
- Brief Communication
- Published: 05 November 2001
- Elizabeth O'Hearn2,3,
- Adam Rosenblatt1,
- Colleen Callahan1,
- Hyon S. Hwang1,
- Roxann G. Ingersoll-Ashworth4,
- Adam Fleisher3,
- Giovanni Stevanin5,
- Alexis Brice5,
- Nicholas T. Potter6,
- Christopher A. Ross1,4,7 &
- …
- Russell L. Margolis1,7
Nature Genetics volume 29, pages 377–378 (2001)Cite this article
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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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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
- 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 - Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Elizabeth O'Hearn - Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Elizabeth O'Hearn & Adam Fleisher - Institute of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Roxann G. Ingersoll-Ashworth & Christopher A. Ross - INSERM U289, Hôpital de la Salpêtrière, Paris, France
Giovanni Stevanin & Alexis Brice - Department of Medical Genetics, University of Tennessee Medical Center, Knoxville, Tennessee, USA
Nicholas T. Potter - 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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- Susan E. Holmes
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Correspondence toRussell 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
- Received: 13 August 2001
- Accepted: 04 October 2001
- Published: 05 November 2001
- Issue Date: December 2001
- DOI: https://doi.org/10.1038/ng760