title: A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
abstract: About two thirds of Duchenne muscular dystrophy (DMD) patients have either gene deletions or duplications. The other DMD cases are most likely the result of point mutations that cannot be easily identified by current strategies. Utilizing a heteroduplex technique and direct sequencing of amplified products, we screened our nondeletion/duplication DMD population for point mutations. We now describe what we believe to be the first dystrophin missense mutation in a DMD patient. The mutation results in the substitution of an evolutionarily conserved leucine to arginine in the actin-binding domain. The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients. This suggests that an intact actin-binding domain is necessary for protein stability and essential for function.
authors.affiliation: Department of Pathology, Ohio State University, Columbus 43210.
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
authors.forename: A C
authors.initials: AC
authors.lastname: Papp
authors.forename: P J
authors.initials: PJ
authors.lastname: Snyder
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
authors.forename: C
authors.initials: C
authors.lastname: Bartolo
authors.forename: M S
authors.initials: MS
authors.lastname: Sedra
authors.forename: L M
authors.initials: LM
authors.lastname: Western
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D009136:Muscular Dystrophies / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes; D004247:DNA