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  • Title: Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.
    Author: Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V.
    Journal: Isr Med Assoc J; 2003 Feb; 5(2):94-7. PubMed ID: 12674656.
    Abstract:
    BACKGROUND: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD) phenotype. OBJECTIVES: To describe unusual cases with large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype METHODS: Screening for dystrophin gene deletion was performed on genomic DNA by using multiplex polymerase chain reaction. Needle muscle biopsies from the quadriceps were obtained using a Bergström needle. The biopsies were stained with histologic and histochemical techniques as well as monoclonal antibodies to dystrophin 1, 2 and 3. RESULTS: In three children with large in-frame deletions of the rod domain (exons 10-44, 13-40 and 3-41), early-onset weakness and a disease course suggested the DMD phenotype. CONCLUSIONS: This observation emphasizes the uncertainty in predicting the Becker phenotype in a young patient based on laboratory evaluation, and that the clinical picture should always be considered.
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