Abstract:

Objective To explore the application of optical genome mapping (OGM) in the diagnosis of Duchenne muscular dystrophy (DMD). Methods An OGM analysis was performed in a child with suspected DMD with a view to discovering the molecular basis of the pathogenesis. Results A male child with significantly elevated creatine kinase at 7 months of age was clinically suspected of having DMD. No pathogenic gene variants were detected by multiplex ligation-dependent probe amplification analysis (MLPA) and exome sequencing. At 1 year and 9 months, the child was unstable and prone to falls, and bilateral gastrocnemius muscle hypertrophy and muscle weakness were detected on physical examination. At the age of 2 years, an intra-arm inversion of about 711kb involving 12 exons of the 44-55 region of the gene was identified by OGM, which enabled the molecular diagnosis of this child. Conclusions OGM technology can successfully detect the reverse mutation of the DMD gene, and is thus poised to become a supplementary diagnostic tool for this disease.

Key words: optical genome mapping, Duchenne muscular dystrophy, DMD gene, child