A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
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.
Holmes
S E
SE
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
O'Hearn
E
E
Rosenblatt
A
A
Callahan
C
C
Hwang
H S
HS
Ingersoll-Ashworth
R G
RG
Fleisher
A
A
Stevanin
G
G
Brice
A
A
Potter
N T
NT
Ross
C A
CA
Margolis
R L
RL
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
D008565:Membrane Proteins; C412507:junctophilin