Li Qianqian, Chen Zhanni, Xiong Hui, Li Ranran, Yu Chenguang, Meng Jingjing, Shi Panlai, Kong Xiangdong
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Genokon Institute of Medical Science and Laboratory, Xiamen, China.
Front Genet. 2021 Nov 26;12:762987. doi: 10.3389/fgene.2021.762987. eCollection 2021.
Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole exome sequencing confirmed the hypothesized large partial exonic deletion of c.7310-11543_7359del (chrX:g.31792260_31803852del) spanning exon 51 and intron 50 in . This large deletion was verified to be by PCR, and the two breakpoints were further confirmed by Sanger sequencing and long-read whole-genome sequencing. Notably, this partial exonic deletion was the only complex variation in the deep intron regions or intron-exon junction regions in . In addition, the case study demonstrates the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.
杜氏肌营养不良症（DMD）是儿童中最常见的进行性且严重致残的神经肌肉疾病之一，很大程度上可归因于Xp21.2 - p21.1染色体上该基因的功能丧失。本文描述了一名被诊断为DMD的10岁男孩的病例。全外显子组测序证实了假设的c.7310 - 11543_7359del（chrX:g.31792260_31803852del）大片段部分外显子缺失，该缺失跨越了该基因的第51外显子和第50内含子。通过聚合酶链反应（PCR）验证了这个大片段缺失，并且通过桑格测序和长读长全基因组测序进一步确认了两个断点。值得注意的是，这个部分外显子缺失是该基因深度内含子区域或内含子 - 外显子交界区域中唯一的复杂变异。此外，该病例研究证明了使用多种分子遗传学检测方法诊断罕见病的临床重要性。
