The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

Marika Pane, Eugenio Maria Mercuri, Claudia Brogna, Giorgia Coratti, Simona Lucibello, Roberta Battini, Giovanni Baranello, Enrico Silvio Bertini, Rachele Rossi, Marcella Neri, Sonia Messina, Adele D’ Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Francesca Magri, Federica Ricci, Marina Pedemonte, Tiziana Mongini, Luca BelloElena Pegoraro, Luisa Politano, Giacomo P. Comi, Valeria A Sansone, Emilio Albamonte, Alice Donati, Enrico Bertini, Nathalie Goemans, Stefano Previtali, Francesca Bovis, Alessandra Ferlini

Risultato della ricerca: Contributo in rivistaArticolo in rivista


The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5′ (upstream) and 3′ (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3′ adjacent nucleotide (“stop+4 model”) was considered (p < 0.05) with patients with stop codon TGA and 3′ adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available.
Lingua originaleEnglish
pagine (da-a)479-488
Numero di pagine10
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2021


  • Duchenne
  • Nonsense mutation
  • Stop+4 model


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