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Published on: February 5, 2018
Incidental finding of a DMD exons 48-55 deletion during prenatal diagnosis
Min Zhang1, Zhaodong Lin2, Meihuan Chen1
1Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, China.
Background:
DMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few cases have been reported in males carrying DMD deletions who are asymptomatic.
Methods:
Family clinical information was collected from the patients. A single nucleotide polymorphism array (SNP-array) was used to detect abnormalities in prenatal diagnosis, and multiplex ligation-dependent probe amplification (MLPA) and long-read sequencing (LRS) were used to confirm the detected variant.
Results:
We incidentally identified DMD exons 48-55 deletion using SNP-array in prenatal diagnosis; the variant was confirmed using MLPA and LRS, and the fragment size and precise locations of breakpoints were determined. The variant was precisely located at genomic position chrX:31640088-31945085, spanning from intron 47 to intron 56 in DMD. Serum biochemical indicators were normal in the male with the deletion.
Conclusion:
Our study is the first to report a DMD exons 48-55 deletion in prenatal diagnosis. The phenotypes of DMD variants are diverse, and this study suggests that prediction of clinical severity based solely on molecular findings should be interpreted with caution.
Insights
This study reports a deletion in the DMD gene (exons 48-55) found during prenatal diagnosis. This finding highlights the diverse phenotypes of DMD variants and cautions against solely relying on molecular data for severity prediction.
Area of Science:
- Genetics
- Molecular Biology
- Prenatal Diagnosis
Background:
- Duchenne muscular dystrophy (DMD) is caused by genetic variants in the DMD gene.
- DMD presents a wide range of phenotypes, from severe muscle degeneration to asymptomatic cases.
- Asymptomatic males with DMD deletions are rarely reported.
Purpose of the Study:
- To report the incidental identification of a specific DMD deletion during prenatal diagnosis.
- To emphasize the variability in DMD phenotypes and the challenges in predicting clinical severity.
Main Methods:
- Collection of family clinical information.
- Utilized single nucleotide polymorphism array (SNP-array) for prenatal detection of chromosomal abnormalities.
- Confirmed variants using multiplex ligation-dependent probe amplification (MLPA) and long-read sequencing (LRS).
Main Results:
- A deletion spanning DMD exons 48-55 was incidentally identified via SNP-array during prenatal diagnosis.
- The deletion was confirmed by MLPA and LRS, with precise breakpoint locations determined.
- The affected male exhibited normal serum biochemical indicators.
Conclusions:
- This is the first report of a DMD exons 48-55 deletion identified during prenatal diagnosis.
- The diverse clinical presentations of DMD variants necessitate caution when predicting severity based solely on molecular findings.
