Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal de...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 49; no. 3; p. 323
Main Authors Hoop, R C, Russo, L S, Riconda, D L, Schwartz, L S, Hoffman, E P
Format Journal Article
LanguageEnglish
Published United States 01.02.1994
Subjects
Adolescent
Child
DNA Mutational Analysis
Dystrophin - genetics
Female
Gene Deletion
Genetic Linkage
Haplotypes
Heterozygote
Humans
Male
Muscular Dystrophies - genetics
Oligodeoxyribonucleotides - genetics
Pedigree
Recombination, Genetic
Repetitive Sequences, Nucleic Acid
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Summary:Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal deletional hotspot region. The second propositus showed only the 5' deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, we show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier's dystrophin genes, giving rise to a son with a partially "repaired" gene retaining only the 5' deletion.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320490316