Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.
Publication/Presentation Date
4-1-2016
Abstract
INTRODUCTION: This case report focuses on identifying novel mutations in juvenile motor neuron disease and emphasizes the significance of whole exome sequencing (WES).
METHODS: We report a 13-year-old Hispanic boy with rapidly progressive weakness, muscle atrophy, tremor, and tongue fasciculation, along with upper motor neuron findings of hyperactive gag reflex, hyperreflexia, and cog-wheel rigidity. Electromyography was suggestive of motor neuron disease. After an extensive evaluation, WES was performed.
RESULTS: WES identified a heterozygous de novo variant of unknown clinical significance (VUS) in the fused-in-sarcoma gene (FUS) [c.1554_1557del]. Although initially reported as a VUS, the clinical data from our patient and data from the medical literature support that the variant is indeed disease-causing.
CONCLUSIONS: The genetic etiology of amyotrophic lateral sclerosis (ALS) is heterogeneous and, as clinical sequencing for FUS was not available, WES was the only method by which a diagnosis of juvenile ALS could be made.
Volume
53
Issue
4
First Page
648
Last Page
652
ISSN
1097-4598
Published In/Presented At
Agarwal, S., Potocki, L., Collier, T. R., Woodbury, S. L., Adesina, A. M., Jones, J., & Lotze, T. E. (2016). Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle & nerve, 53(4), 648–652. https://doi.org/10.1002/mus.25030
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
26788680
Department(s)
Department of Pediatrics
Document Type
Article