title: Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
abstract: BACKGROUND
  The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies.
  
  
  METHODS
  Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G > C) carried by a 6-year-old boy who presented with a history of progressive proximal muscle weakness and elevated serum creatine kinase levels. RNA analysis showed that the first two nucleotides of the mutated intron 26 (AC) were not recognized by the splicing machinery and a new splicing site was created within exon 27, generating a premature stop codon and avoiding protein translation.
  
  
  CONCLUSIONS
  The evaluation of the pathogenic effect of the mutation by mRNA analysis will be useful in the optics of an antisense oligonucleotides (AON)-based therapy.
authors: Department of Phatophysiology and Transplantation, Stem Cell Laboratory, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, via F. Sforza 35, 20122, Milan, Italy.
authors: Mirella
authors: M
authors: Meregalli
authors: Department of Phatophysiology and Transplantation, Stem Cell Laboratory, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, via F. Sforza 35, 20122, Milan, Italy.
authors: Simona
authors: S
authors: Maciotta
authors: Department of Phatophysiology and Transplantation, Stem Cell Laboratory, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, via F. Sforza 35, 20122, Milan, Italy.
authors: Valentina
authors: V
authors: Angeloni
authors: Department of Phatophysiology and Transplantation, Stem Cell Laboratory, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, via F. Sforza 35, 20122, Milan, Italy. yvan.torrente@unimi.it.
authors: Yvan
authors: Y
authors: Torrente
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D022821:RNA Splice Sites; D017423:Sequence Analysis, RNA
chemical_list: D016189:Dystrophin; D022821:RNA Splice Sites
keywords: DMD; Dystrophin gene; Frame-shift mutation