在中国杜氏肌营养不良症家族中鉴定该基因的两个新变体。
Identification of Two Novel Variants of the Gene in Chinese Families with Duchenne Muscular Dystrophy.
作者信息
Wu Jiangfen, Ren Lingyan, Huang Xinyi, Hu Li, Zhang Liangliang, Xie Dan, Li Zhimin, Han Naijian, Huang Shengwen
机构信息
GuiZhou University Medical College, Guiyang, Guizhou, People's Republic of China.
Prenatal Diagnosis Center, Guizhou Provincial People's Hospital, Guiyang, People's Republic of China.
出版信息
Pharmgenomics Pers Med. 2023 Aug 17;16:759-766. doi: 10.2147/PGPM.S416294. eCollection 2023.
BACKGROUND
Duchenne muscular dystrophy (DMD), an X-linked recessive neuromuscular disorder, is caused by pathogenic variants in the 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 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.
背景
杜氏肌营养不良症（DMD）是一种X连锁隐性神经肌肉疾病，由编码肌肉细胞中一种大型结构蛋白的基因突变引起。
方法
两名先证者，分别为一名6岁男孩和一名1个月大的婴儿，根据肌酸激酶和肌酸激酶同工酶水平升高临床诊断为DMD。对致病变异进行了CNVplex和全外显子组测序（WES），并使用桑格测序进行验证。
结果
CNVplex在两名患者的该基因中均未发现大片段缺失或重复，但WES在系谱1的先证者中发现外显子48（NM_004006.2:c.6963del，p.Asp2322ThrfsTer16）有一个单核苷酸缺失，在系谱2的先证者中外显子27（NM_004006.2:c.3637A>T，p.K1213Ter）有一个无义突变。
结论
我们的研究结果扩展了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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