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Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.

ABSTRACT: 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.

SUBMITTER: Wu B

PROVIDER: S-EPMC5364719 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Identification of a novel <i>DMD</i> duplication identified by a combination of MLPA and targeted exome sequencing.

Wu Beibei B Wang Liying L Dong Ting T Jin Jiahui J Lu Yili Y Wu Huiping H Luo Yue Y Shan Xiaoou X

Molecular cytogenetics 20170323

<h4>Background</h4>Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the <i>DMD</i> gene. The aim of this study was to identify a de novo mutation of the <i>DMD</i> gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient.<h4>Results</h4>The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified ...[more]

PMID: 28344651

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Project description:BackgroundWith the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference.MethodsCorresponding nucleotide positions for 1533 different alterations classified as pathogenic or likely pathogenic identified on targeted NGS multi-gene panel tests in our laboratory were interrogated in data from 100 randomly-selected clinical WES samples to quantify the sequence coverage at each position. Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary dyskinesia, Marfan syndrome/aortic aneurysms, cardiomyopathies and arrhythmias.ResultsWhen assessing coverage among 100 individual WES samples for each pathogenic variant (153,300 individual assessments), 99.7% (n = 152,798) would likely have been detected on WES. All pathogenic variants had at least some coverage on exome sequencing, with a total of 97.3% (n = 1491) detectable across all 100 individuals. For the remaining 42 pathogenic variants, the number of WES samples with adequate coverage ranged from 35 to 99. Factors such as location in GC-rich, repetitive, or homologous regions likely explain why some of these alterations were not detected across all samples. To validate study findings, a similar analysis was performed against coverage data from 60,706 exomes available through the Exome Aggregation Consortium (ExAC). Results from this validation confirmed that 98.6% (91,743,296/93,062,298) of pathogenic variants demonstrated adequate depth for detection.ConclusionsResults from this in silico analysis suggest that exome sequencing may achieve a diagnostic yield similar to panel-based testing for Mendelian diseases.

Dataset Information

Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.

Publications

Identification of a novel <i>DMD</i> duplication identified by a combination of MLPA and targeted exome sequencing.

Similar Datasets

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