论文已发表
注册即可获取德孚的最新动态
IF 收录期刊
中国杜氏肌营养不良家族 DMD 基因的两个新变体的鉴定
Authors Wu J, Ren L, Huang X, Hu L, Zhang L, Xie D, Li Z, Han N, Huang S
Received 8 April 2023
Accepted for publication 11 August 2023
Published 17 August 2023 Volume 2023:16 Pages 759—766
DOI https://doi.org/10.2147/PGPM.S416294
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Dr Martin H Bluth
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.
Keywords: DMD gene, exon 48, exon 27, whole exome sequencing, Duchenne muscular dystrophy