Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy

The genetic defects responsible for the allelic disorders of BMD and the more severe DMD have been shown to be mutations within the dystrophin gene, which encodes a 14 kb transcript. We describe here a BMD patient who belongs to a small class of subjects with large in frame deletions of the dystroph...

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Bibliographic Details
Published in:Journal of medical genetics 1991-12, Vol.28 (12), p.860-864
Main Authors: Love, D R, Flint, T J, Genet, S A, Middleton-Price, H R, Davies, K E
Format: Article
Language:English
Subjects:
Adult
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Blotting, Southern
Chromosome Deletion
Diseases of striated muscles. Neuromuscular diseases
DNA
dystrophin
Dystrophin - genetics
genes
Genetic Therapy
Humans
Male
Medical sciences
Molecular Sequence Data
Muscular Dystrophies - genetics
Neurology
Pedigree
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Summary:The genetic defects responsible for the allelic disorders of BMD and the more severe DMD have been shown to be mutations within the dystrophin gene, which encodes a 14 kb transcript. We describe here a BMD patient who belongs to a small class of subjects with large in frame deletions of the dystrophin gene that remove apparently dispensable coding sequence, thereby producing functional truncated dystrophin. The in vitro reconstruction of these deletion derivatives of full length dystrophin transcripts should enable higher efficiency transfection of human muscle or murine germline cells using retroviral based vectors, compared with the full length transcript. This capability offers a means of examining retroviral mediated transfer as a potential therapeutic strategy in severely affected DMD patients.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.12.860