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

Susan E. Holmes, Elizabeth O'Hearn, Adam Rosenblatt, Colleen Callahan, Hyon S. Hwang, Roxann G. Ingersoll-Ashworth, Adam Fleisher, Giovanni Stevanin, Alexis Brice, Nicholas T. Potter, Christopher A. Ross, Russell L. Margolis
Nat Genet. 2001-11-05; 29(4): 377-378
DOI: 10.1038/ng760


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1. Nat Genet. 2001 Dec;29(4):377-8.

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

Holmes SE(1), O’Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth
RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL.

Author information:
(1)Department of Psychiatry, Johns Hopkins University School of Medicine,
Baltimore, Maryland 21287, USA.

Erratum in
Nat Genet 2002 Jan;30(1):123.

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). 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.

DOI: 10.1038/ng760
PMID: 11694876 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus