Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy

作者：Nakamura Akinori^*; Fueki Noboru; Shiba Naoko; Motoki Hirohiko; Miyazaki Daigo; Nishizawa Hitomi; Echigoya Yusuke; Yokota Toshifumi; Aoki Yoshitsugu; Takeda Shin'ichi

来源：Journal of Human Genetics, 2016, 61(7): 663-667.

DOI：10.1038/jhg.2016.28

Few cases of dystrophinopathy show an asymptomatic phenotype with mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene. Our patient showed increased serum creatine kinase levels at 12 years of age. A muscle biopsy at 15 years of age led to a diagnosis of Becker muscular dystrophy. The patient showed a slight decrease in cardiac function at the age of 21 years and was administered a beta-blocker, but there was no muscle involvement even at the age of 27 years. A deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene was detected, and dystrophin protein expression was similar to 15% that of control level. We propose that in-frame deletion of exons 3-9 may produce a functional protein, and that multiexon skipping therapy targeting these exons may be feasible for severe dystrophic patients with a mutation in the 5' hot spot of the DMD gene.

• 出版日期2016-7