A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation.
A total of 161 unrelated Duchenne (DMD) and Becker muscular dystrophy (BMD) patients were screened for deletions in the brain promoter region of the dystrophin gene. Southern blot analysis using a probe for the brain promoter detected a deletion in this region in only one of the DMD families, in a patient with normal intelligence. This deletion also included the promoter of the muscle-type dystrophin and the exons encoding the actin-binding and part of the spectrin-like domains. Our data suggest that deletions in the brain promoter region are rare in DMD and are compatible with normal intelligence.
Rapaport
D
D
Departamento de Biologia, Universidade de São Paulo, Brasil.
Passos-Bueno
M R
MR
Takata
R I
RI
Campiotto
S
S
Eggers
S
S
Vainzof
M
M
Makover
A
A
Nudel
U
U
Yaffe
D
D
Zatz
M
M
D000328:Adult; D001921:Brain / Q000378:metabolism*; D016189:Dystrophin / Q000235:genetics; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011401:Promoter Regions, Genetic / Q000235:genetics*
D016189:Dystrophin