Article
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
Journal of human genetics - 1 Apr 2017
Niba Emma Tabe Eko, Nishida Atsushi, Tran Van Khanh, Vu Dung Chi, Matsumoto Masaaki, Awano Hiroyuki, Lee Tomoko, Takeshima Yasuhiro, Nishio Hisahide, Matsuo Masafumi
Abstract excerpt
Next-generation sequencing (NGS) discloses nucleotide changes in the genome. Mutations at splicing regulatory elements are expected to cause splicing errors, such as exon skipping, cryptic splice site activation, partial exon loss or intron retention. In dystrophinopathy patients, prediction of splicing outcomes is essential to determine the phenotype: either severe Duchenne or mild Becker muscular dystrophy,...
Topics
- Base Sequence
- Child
- Child, Preschool
- Dystrophin
- Exons
- High-Throughput Nucleotide Sequencing
- Humans
- Introns
- Male
- Mutation
- RNA Splice Sites