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Breakpoint junction features of seven DMD deletion mutations

Keegan, N.P., Wilton, S.D. and Fletcher, S. (2019) Breakpoint junction features of seven DMD deletion mutations. Human Genome Variation, 6 (1).

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Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in early childhood. Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene. Characterizing the junction points of large genomic deletions facilitates a more detailed model of the origins of these mutations and allows for a greater understanding of phenotypic variations associated with particular genotypes, potentially providing insights into the deletion mechanism. Here, we report sequencing of breakpoint junctions for seven patients with intragenic, whole-exon DMD deletions. Of the seven junction sequences identified, we found one instance of a “clean” break, three instances of microhomology (2–5 bp) at the junction site, and three complex rearrangements involving local sequences. Bioinformatics analysis of the upstream and downstream breakpoint regions revealed a possible role of short inverted repeats in the initiation of some of these deletion events.

Item Type: Journal Article
Murdoch Affiliation: Centre for Molecular Medicine and Innovative Therapeutics (CMMIT)
Publisher: Springer Nature
Copyright: © 2019 Springer Nature Publishing AG
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