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Published on: May 7, 2020
Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing
Beibei Wu1, Liying Wang2, Ting Dong1
1Department 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.
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.
Insights
A de novo mutation, a duplication of exons 4-42 in the DMD gene, was identified in a Chinese infant with Duchenne muscular dystrophy (DMD). This genetic finding offers insights into early-stage DMD diagnosis and potential future research avenues.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder.
- It results from mutations in the dystrophin (DMD) gene, leading to progressive muscle degeneration.
- Early diagnosis and understanding of genetic mutations are crucial for managing DMD.
Purpose of the Study:
- To identify a de novo mutation in the DMD gene within a Chinese family.
- To characterize the specific mutation and its inheritance pattern.
- To describe the clinical and phenotypic features of the affected infant.
Main Methods:
- Targeted exome sequencing was employed to analyze the DMD gene.
- Multiplex Ligation-dependent Probe Amplification (MLPA) was used to detect gene duplications or deletions.
- Clinical examination, biochemical analyses, and electromyography were performed for phenotypic assessment.
Main Results:
- A de novo duplication encompassing exons 4-42 of the DMD gene was identified in the patient.
- The patient presented with early-stage symptoms consistent with DMD.
- The mother was confirmed to be a carrier of the same identified mutation.
Conclusions:
- A novel de novo duplication mutation in the DMD gene was identified in an infant with early-stage Duchenne muscular dystrophy.
- This finding highlights the importance of genetic analysis in diagnosing DMD, even in early stages.
- The identified mutation provides valuable information for future research into DMD pathogenesis and therapeutic strategies.
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