CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
The authors report a large series of patients with Huntington disease (HD)-like phenotype without CAG repeat expansions in the IT15 gene that were screened for the newly identified CAG/CTG expansion in the gene encoding junctophilin-3. Normal alleles in controls had from 8 to 28 repeats. A single patient of North African origin with typical HD carried an allele with 50 uninterrupted repeats, representing approximately 2% of the non-IT15 HD patients tested. Therefore, further genetic heterogeneity is expected in HD.
Stevanin
G
G
INSERM U289 and Institut Fédératif des Neurosciences, Paris, France.
Camuzat
A
A
Holmes
S E
SE
Julien
C
C
Sahloul
R
R
Dodé
C
C
Hahn-Barma
V
V
Ross
C A
CA
Margolis
R L
RL
Durr
A
A
Brice
A
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D008565:Membrane Proteins; C412507:junctophilin