We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.
- Authors
Beibei Wu; Liying Wang; Ting Dong; Jiahui Jin; Yili Lu; Huiping Wu; Yue Luo; Xiaoou Shan
- Abstract
Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient. Results: The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified a duplication of exons 4-42 in DMD gene with targeted exome sequencing and multiplex ligation-dependent probe amplification (MLPA). In addition, the patient's mother was a carrier of the same mutation. Conclusions: We identified a de novo duplication of exons 4-42 in a patient with early stage DMD. The discovery of this mutation may provide insights into future investigations.
- Subjects
DUCHENNE muscular dystrophy; EXONS (Genetics); GENETIC mutation; DYSTROPHIN; ELECTROMYOGRAPHY; GENETICS
- Publication
Molecular Cytogenetics (17558166), 2017, Vol 10, p1
- ISSN
1755-8166
- Publication type
Article
- DOI
10.1186/s13039-017-0301-0