Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA.

Duchenne muscular dystrophy carrier frequency is 0.11% in Yueyang, China, with a high prevalence of exon 45-55 deletions and significant regional variation.

• Why it matters: Understanding the mutation spectrum and carrier rates in specific populations is essential for effective genetic counseling and early intervention to reduce disease incidence.
• What they did: The study analyzed 25,611 women using next-generation sequencing and MLPA to identify pathogenic variants, CNVs, and small indels, revealing 25 distinct variants and regional differences.
• The result: Findings emphasize the importance of screening for CNVs and VUS, especially those with high Bayesian scores, to enhance preventive strategies and lower DMD occurrence.