P580: Optical genome mapping resolves positional context of DMD structural variants for accurate diagnosis

Genetics in Medicine Open 2026 Open access

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Authors: Jessica A. Cooley Coleman, Kameryn M. Butler, Mackenzie Lally, Wendy Pierce, Michele Yang, Melissa A. Gibbons, Allison G. Wheeler, Jasmine Chiang, Alysse Cool, Allison Boyd, Ryan W. Gates, Barbara DuPont
+2 more Michael J. Friez, Nikhil Sahajpal
DOI: 10.1016/j.gimo.2026.104071
Cited by: 0

Abstract

DMD is an X-linked gene that encodes for the dystrophin protein, which is located primarily in skeletal and cardiac muscles, and is essential for muscle movements. Pathogenic variants in DMD result in Duchene muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or DMD-related dilated cardiomyopathy. DMD presents in early childhood with delayed walking and proximal weakness affecting gross motor skills. Individuals are typically wheelchair dependent by age 12 and develop cardiomyopathy by age 18.

Fields of Study & Subjects

Genomics and Rare Diseases Muscle Physiology and Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104071–104071
Publication date
1 January 2026
Language
EN