Identification of a novelDMDduplication identified by a combination of MLPA and targeted exome sequencing.
BACKGROUND
Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in theDMDgene. The aim of this study was to identify a de novo mutation of theDMDgene 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 inDMDgene 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.
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Beibei
B
Wu
Capital Medical University, Beijing, 100069 China.
Liying
L
Wang
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Ting
T
Dong
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Jiahui
J
Jin
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Yili
Y
Lu
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Huiping
H
Wu
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Yue
Y
Luo
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang 325027 People's Republic of China.
Xiaoou
X
Shan
Duchenne muscular dystrophy; Duplication; Dystrophin; MLPA; Targeted exome sequencing