Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
Articolo
Data di Pubblicazione:
2016
Citazione:
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26 / M. Meregalli, S. Maciotta, V. Angeloni, Y. Torrente. - In: BMC MEDICAL GENETICS. - ISSN 1471-2350. - 17:1(2016 Aug 11).
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.
Case Presentation: 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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
DMD; Dystrophin gene; frame-shift mutation
Elenco autori:
M. Meregalli, S. Maciotta, V. Angeloni, Y. Torrente
Link alla scheda completa: