HALF THE DYSTROPHIN GENE IS APPARENTLY ENOUGH FOR A MILD CLINICAL COURSE - CONFIRMATION OF ITS POTENTIAL USE FOR GENE-THERAPY

The largest in-frame deletion in the dystrophin gene previously report ed in a BMD patient encompasses exons 17 to 48, which corresponds to 4 6% of the coding region. Here we report a larger deletion of exons 13 to 48 in a 37 year-old BMD patient with a mild phenotype. Such deletio n, which corresponds to 50% of the coding region is the largest report ed so far associated with a benign clinical course. Dystrophin assessm ent (through immunofluorescence and Western blot) using antibodies aga inst different regions of the dystrophin was concordant with his delet ion. The observation of this patient has important implication for gen e therapy trials based on minigenes, since it confirms that deletions of up to 66% of the rod domain are compatible with a mild phenotype.