Identification of a novel duplication 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 the gene. The aim of this study was to identify a de novo mutation of the 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 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.