Article
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Human mutation - 1 Apr 2011
Khelifi Mouna Messaoud, Ishmukhametova Aliya, Khau Van Kien Philippe, Thorel Delphine, Méchin Déborah, Perelman Serge, Pouget Jean, Claustres Mireille, Tuffery-Giraud Sylvie
Abstract excerpt
We report on two unprecedented cases of pseudoexon (PE) activation in the DMD gene resulting from pure intronic double-deletion events that possibly involve microhomology-mediated mechanisms. Array comparative genomic hybridization analysis and direct genomic sequencing allowed us to elucidate the causes of the pathological PE inclusion detected in the RNA of the patients. In the first case (Duchenne phenotype),...
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