Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations

Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy

“…We were surprised by the detection rate of DMD mutations in our cohort. With the clinical use of next‐generation sequencing, sequence analysis of the DMD gene is easier and more efficient than ever . When prenatal diagnosis is necessary, every effort should be made to find the disease‐causing mutation in the proband, thus ensuring accurate results for the fetus.…”

Clinical Utility Gene Card for: Becker muscular dystrophy

“…The DMD gene may be sequenced as part of an in-house gene panel, a commercially available sequencing gene panel such as TruSight One (Illumina), or a whole exome. Single-step methods able to detect exon copy variants and exonic point variants are also streamlining this process [23][24][25][26]. Point variants affecting splicing (including those deep within intronic regions of DMD) can affect RNA expression and/or processing.…”

“…MLPA has an analytical sensitivity of~71% and when combined with Sanger or massively parallel sequencing of the coding regions and splice sites following negative MLPA results, the analytical sensitivity becomes~97% [29]. Some mutational analyses using single platforms have achieved sensitivities from 92 to 99% [23,25,26]. Array CGH can identify complex rearrangements that go undetected by MLPA [36].…”

CUGC for Duchenne muscular dystrophy (DMD)

“…The analytical sensitivity of MLPA alone is 71% and~97% when combined with sequencing of the coding regions and splice sites following negative MLPA results [36]. Studies using single platform mutational analysis have reported sensitivities between 92 and 99% [32,34,42]. Deep intronic variants can be characterised through directed sequencing based on results from sequencing cDNA derived from skeletal muscle mRNA [43].…”