title: A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation.
abstract: 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.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brasil.
authors.forename: D
authors.initials: D
authors.lastname: Rapaport
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: R I
authors.initials: RI
authors.lastname: Takata
authors.forename: S
authors.initials: S
authors.lastname: Campiotto
authors.forename: S
authors.initials: S
authors.lastname: Eggers
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: A
authors.initials: A
authors.lastname: Makover
authors.forename: U
authors.initials: U
authors.lastname: Nudel
authors.forename: D
authors.initials: D
authors.lastname: Yaffe
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: 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*
chemical_list: D016189:Dystrophin