中国杜氏肌营养不良症家族DMD基因两个新变异的鉴定。

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S416294
Jiangfen Wu, Lingyan Ren, Xinyi Huang, Li Hu, Liangliang Zhang, Dan Xie, Zhimin Li, Naijian Han, Shengwen Huang
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引用次数: 0

摘要

背景:杜氏肌营养不良症(DMD)是一种x连锁的隐性神经肌肉疾病,是由编码肌肉细胞中一个大结构蛋白的DMD基因的致病性变异引起的。方法:根据肌酸激酶和肌酸激酶同工酶水平升高,对2例6岁男童和1月龄婴儿进行临床诊断。对因果变异进行CNVplex和全外显子组测序(WES),并使用Sanger测序进行验证。结果:CNVplex在两例患者中均未发现DMD基因的大缺失或重复,但WES在48外显子(NM_004006.2:c)上发现了单核苷酸缺失。在第1家系先显子(NM_004006.2:c)中存在无义突变(NM_004006.2:c)。3637A>T, p.K1213Ter)系2先证者。结论:本研究结果拓展了DMD的突变谱,丰富了我们对DMD临床特征的认识。为参与本研究的两个家庭提供了遗传咨询。
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Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy.

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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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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