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

  • Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760.
S E Holmes  1 ,  E O'Hearn ,  A Rosenblatt ,  C Callahan ,  H S Hwang ,  R G Ingersoll-Ashworth ,  A Fleisher ,  G Stevanin ,  A Brice ,  N T Potter ,  C A Ross ,  R L Margolis
Affiliations
  • 1. Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
PMID: 11694876 DOI: 10.1038/ng760
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). 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.