Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
复制标题
两个紧密间隔的顺式突变导致乌尔里希先天性肌营养不良症
DOI：
10.1038/s41439-019-0052-z
复制
发表时间：
2019
影响因子：
1.5
通讯作者：
Takeshima Yasuhiro
中科院分区：
文献类型：
--
作者：
Shimomura Hideki;Lee Tomoko;Tanaka Yasuhiko;Awano Hiroyuki;Itoh Kyoko;Nishino Ichizo;Takeshima Yasuhiro
一名2岁男孩被诊断为乌尔里希先天性肌营养不良症(UCMD)肌肉活检。COL6A3基因经下一代测序分析发现有两个杂合性剪接点突变(c.6283-1 G >； G/T和c.6310-2 A >； A/T)，但未产生正常的基因。基因组DNA分析显示，两个突变位于同一个等位基因上；然而，在两个亲本中都没有检测到突变。这些结果表明，两个紧密相隔的从头突变导致了常染色体显性UCMD。
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.