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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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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DOI: https://doi.org/10.1038/ng760