Study unveils new NIPT-based method to detect pathogenic CNVs in DMD gene, shedding light on maternal carrier frequency in China.
- A recent study identified and classified 128 true-positive exonic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene using noninvasive prenatal testing (NIPT) data.
- The study fills a significant information gap by reporting 33 pathogenic or likely pathogenic maternal CNVs in the DMD gene, providing insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
- Researchers re-analyzed 135,047 NIPT samples and confirmed 128 true-positive exonic CNVs in the DMD gene, with 48 having specific exons refined and five large CNVs validated.
- Pathogenic and recurrent CNVs, particularly in exons 48-51, were identified, allowing researchers to predict potential phenotypes using data from the Leiden Open Variation Database.
- The study included follow-ups on male offspring with DMD gene variants, highlighting the need for long-term monitoring and further research to understand the impact of genetic deletions on muscle health and development.
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Genetics, Pathology & Lab Medicine, Pediatrics