Becker muscular dystrophy caused by exon 2-truncating mutation of DMD

Tetsuhiko Ikeda; Hidehiko Fujinaka; Kiyoe Goto; Takashi Nakajima; Tetsuo Ozawa

doi:10.1038/s41439-019-0083-5

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD

Hum Genome Var. 2019 Nov 18:6:52. doi: 10.1038/s41439-019-0083-5. eCollection 2019.

Authors

Tetsuhiko Ikeda^{1

2}, Hidehiko Fujinaka^{3

4}, Kiyoe Goto⁵, Takashi Nakajima¹, Tetsuo Ozawa⁶

Affiliations

¹ Department of Neurology, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata Japan.
² 2Department of Neurology, Brain Research Institute, Niigata University, Niigata, Niigata Japan.
³ Department of Pediatrics, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata Japan.
⁴ Department of Clinical Research, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata Japan.
⁵ Deprtment of Genetic Counseling, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata Japan.
⁶ Department of Internal Medicine, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata Japan.

Abstract

Nonsense and frameshift mutations of the dystrophin (DMD) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a very mild phenotype of BMD caused by a frameshift mutation, NM_004006.2: c.40_41del GA/p.(Glu14ArgfsX17), in exon 2 of the DMD gene.

Keywords: Cancer epigenetics; Microbial genetics.