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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

Nature Genetics volume 4, pages 357–360 (1993)Cite this article

Abstract

About two thirds of Duchenne muscular dystrophy (DMD) patients have either gene deletions or duplications. The other DMD cases are most likely the result of point mutations that cannot be easily identified by current strategies. Utilizing a heteroduplex technique and direct sequencing of amplified products, we screened our nondeletion/duplication DMD population for point mutations. We now describe what we believe to be the first dystrophin missense mutation in a DMD patient. The mutation results in the substitution of an evolutionary conserved leucine to arginine in the actin–binding domain. The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients. This suggests that an intact actin–binding domain is necessary for protein stability and essential for function.

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Authors and Affiliations

  1. Department of Pathology, Ohio State University, Columbus, Ohio, 43210, USA

    Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra & Lorraine M. Western

  2. Department of Neurology, Ohio State University, Columbus, Ohio, 43210, USA

    Arthur H. M. Burghes & Jerry R. Mendell

  3. Department of Molecular Genetics, Ohio State University, Columbus, Ohio, 43210, USA

    Claire Bartolo

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  1. Thomas W. Prior
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Prior, T., Papp, A., Snyder, P. et al. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet 4, 357–360 (1993). https://doi.org/10.1038/ng0893-357

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