Key result
Whole exome sequencing identified two novel variants in the DMD gene (a deletion in exon 48 and a nonsense mutation in exon 27) in two Chinese probands with Duchenne muscular dystrophy.
Case Report (n=2)
The study identifies two novel variants in the DMD gene in Chinese families, expanding the known mutation spectrum for Duchenne muscular dystrophy.
Expands DMD mutation spectrum in Chinese families; hypothesis-generating and should not yet change practice.
Background: Duchenne muscular dystrophy (DMD), an X-linked recessive neuromuscular disorder, is caused by pathogenic variants in the DMD gene encoding a large structural protein in muscle cells. Methods: Two probands, a 6-year old boy and a 1-month old infant, respectively, were clinically diagnosed with DMD based on elevated levels of creatine kinase and creatine kinase isoenzyme. CNVplex and whole exome sequencing (WES) were performed for causal variants, and Sanger sequencing was used for verification. Results: CNVplex found no large deletions or duplications in the DMD gene in both patients, but WES discovered a single-nucleotide deletion in exon 48 (NM_004006.2:c.6963del, p.Asp2322ThrfsTer16) in the proband of pedigree 1, and a nonsense mutation in exon 27 (NM_004006.2:c.3637A>T, p.K1213Ter) in the proband of pedigree 2. Conclusion: The results of our study expand the mutation spectrum of DMD and enrich our understanding of the clinical characteristics of DMD. Genetic counseling was provided for the two families involved in this study.
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Wu et al. (2023) conducted a case report in Duchenne muscular dystrophy (n=2). Whole exome sequencing and CNVplex was evaluated on Causal variants in the DMD gene. Whole exome sequencing identified two novel variants in the DMD gene (a deletion in exon 48 and a nonsense mutation in exon 27) in two Chinese probands with Duchenne muscular dystrophy.
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