两个紧密相邻的突变导致了乌尔里希先天性肌营养不良。
Two closely spaced mutations result in Ullrich congenital muscular dystrophy.
作者信息
Shimomura Hideki, Lee Tomoko, Tanaka Yasuhiko, Awano Hiroyuki, Itoh Kyoko, Nishino Ichizo, Takeshima Yasuhiro
机构信息
1Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
2Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
出版信息
Hum Genome Var. 2019 Apr 26;6:21. doi: 10.1038/s41439-019-0052-z. eCollection 2019.
A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis revealed two mutations located on the same allele; however, no mutation was detected in either parent. These results indicated that two closely spaced de novo mutations resulted in the autosomal dominant UCMD.
一名2岁男孩经肌肉活检被诊断为乌尔里希先天性肌营养不良（UCMD）。通过下一代测序进行的COL6A3基因分析显示有两个杂合剪接位点突变（c.6283-1 G > G/T和c.6310-2 A > A/T），而产生的是正常mRNA。基因组DNA分析显示两个突变位于同一等位基因上；然而，在父母双方中均未检测到突变。这些结果表明两个紧密相邻的新生突变导致了常染色体显性UCMD。
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