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.
Original language | English (US) |
---|---|
Pages (from-to) | 648-652 |
Number of pages | 5 |
Journal | Muscle and Nerve |
Volume | 53 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1 2016 |
Externally published | Yes |
Keywords
- Fused-in-sarcoma (FUS) gene
- Genetics
- Juvenile amyotrophic lateral sclerosis
- Motor neuron disease
- Spasticity
- Weakness
- Whole exome sequencing
ASJC Scopus subject areas
- Physiology
- Clinical Neurology
- Cellular and Molecular Neuroscience
- Physiology (medical)