Key result
A combination of targeted exome sequencing and multiplex ligation-dependent probe amplification identified a novel de novo duplication of exons 4-42 in the DMD gene of a 9-month-old patient.
Case Report (n=1)
No
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Identified a novel de novo duplication of exons 4-42 in the DMD gene in a patient with early stage Duchenne muscular dystrophy.
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. 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. 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.
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Wu et al. (2017) conducted a case report in Duchenne muscular dystrophy (n=1). Targeted exome sequencing and multiplex ligation-dependent probe amplification (MLPA) was evaluated on Identification of DMD gene mutation. A combination of targeted exome sequencing and multiplex ligation-dependent probe amplification identified a novel de novo duplication of exons 4-42 in the DMD gene of a 9-month-old patient.
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