title: A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
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.
authors.affiliation: Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
authors.forename: S E
authors.initials: SE
authors.lastname: Holmes
authors.forename: E
authors.initials: E
authors.lastname: O'Hearn
authors.forename: A
authors.initials: A
authors.lastname: Rosenblatt
authors.forename: C
authors.initials: C
authors.lastname: Callahan
authors.forename: H S
authors.initials: HS
authors.lastname: Hwang
authors.forename: R G
authors.initials: RG
authors.lastname: Ingersoll-Ashworth
authors.forename: A
authors.initials: A
authors.lastname: Fleisher
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: N T
authors.initials: NT
authors.lastname: Potter
authors.forename: C A
authors.initials: CA
authors.lastname: Ross
authors.forename: R L
authors.initials: RL
authors.lastname: Margolis
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D018911:Trinucleotide Repeats
chemical_list: D008565:Membrane Proteins; C412507:junctophilin