Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions | DuchenneXchange

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Abstracts & Posters

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions

key information

source: Neuromuscular Disorders

year: 2017

authors: Eri Takeshita, Narihiro Minami, Kumiko Minami, Mikiya Suzuki, TakeyaAwashima, Akihiko Ishiyama, Hirofumi Komaki, Ichizo Nishino, Masayuki Sasaki

summary/abstract:

Abstract
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers’ sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years. Her muscle pathology showed most of the fibers were negative for dystrophin immunohistochemical staining. She lost ambulation at 11 years. Multiplex ligation-dependent probe amplification analysis of this gene detected one copy of exons 48–53; she was found to be a BMD carrier with an in-frame deletion. Messenger RNA from her muscle demonstrated out-of-frame deletions of exons 48–50 and 51–53 occurring on separate alleles. Genomic DNA from her lymphocytes demonstrated the accurate deletion region on each allele. To our knowledge, this is the first report on a female patient possessing compound heterozygous contiguous exon deletions in the dystrophin gene, leading to DMD.

organisation: National Center Hospital, Japan; National Hospital Organization, Japan; National Institute of Neuroscience, Japan; National Center of Neurology and Psychiatry (NCNP), Japan

DOI: 10.1016/j.nmd.2017.03.011

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