Characterization of deletions in the dystrophin gene giving mild phenotypes

We have characterized deletions of the dystrophin gene in patients suffering from relatively mild muscular dystrophy. Our data show that most of the Becker muscular dystrophy (BMD) patients have intragenic deletions which leave the protein reading frame in phase. Remarkably, large deletions of the r...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 37; no. 1; p. 136
Main Authors Love, D R, Flint, T J, Marsden, R F, Bloomfield, J F, Daniels, R J, Forrest, S M, Gabrielli, O, Giorgi, P, Novelli, G, Davies, K E
Format Journal Article
LanguageEnglish
Published United States 01.09.1990
Subjects
Adrenal Glands - abnormalities
Chromosome Deletion
Chromosome Mapping
Dystrophin - genetics
Glycerol Kinase - deficiency
Humans
Male
Muscular Dystrophies - genetics
Muscular Dystrophies - metabolism
Muscular Dystrophies - pathology
Pedigree
Phenotype
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Summary:We have characterized deletions of the dystrophin gene in patients suffering from relatively mild muscular dystrophy. Our data show that most of the Becker muscular dystrophy (BMD) patients have intragenic deletions which leave the protein reading frame in phase. Remarkably, large deletions of the region corresponding to the central triple helical repeats in the protein can result in an exceptionally mild phenotype. Three brothers suffering from BMD, glycerol kinase deficiency, and adrenal hypoplasia possess a deletion at the 3' end of the gene. They also display developmental delay. Thus the 3' processing of the gene must be necessary for the correct function of the dystrophin molecule.
ISSN:0148-7299
DOI:10.1002/ajmg.1320370132