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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Dineke Westra1, Meyke I Schouten1, Bas C Stunnenberg2
1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Journal of Neuromuscular Diseases
|May 26, 2019
Summary
Whole exome sequencing (WES) provides an unbiased genetic diagnosis for neuromuscular disorders (NMDs). This method identified disease-causing variants in 19% of patients, aiding clinical management and genetic counseling.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Neuromuscular disorders (NMDs) present diverse clinical and genetic features.
- Accurate molecular genetic diagnosis is crucial for patient management, genetic counseling, and therapeutic trial eligibility.
Purpose of the Study:
- To evaluate the clinical utility of panel-based whole exome sequencing (WES) for diagnosing NMDs in pediatric and adult patients.
- To assess WES as a diagnostic tool in a population with varied neuromuscular symptoms and previous negative genetic testing.
Main Methods:
- Clinical exome sequencing (CES) was performed on 396 patients with suspected genetic NMDs.
- Variants were analyzed in genes associated with NMDs, considering variable patient ages, phenotypes, and inheritance patterns.
Main Results:
- Disease-causing variants were identified in 19% (75/396) of patients.
- Variants in COL6-genes and RYR1 were the most frequent genetic causes identified.
- Likely pathogenic or uncertain variants were found in 24% of patients, requiring further analysis.
Conclusions:
- Panel-based WES offers an unbiased approach for NMD genetic diagnostics.
- WES can serve as a first-tier diagnostic test for NMDs with high genetic suspicion.
- Functional and segregation analyses are essential for confirming uncertain genetic findings.
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