Utility of whole exome sequencing in evaluation of juvenile motor neuron disease

Sonika Agarwal, Lorraine Potocki, Talia R. Collier, Suzanne L. Woodbury, Adekunle M. Adesina, Jeremy Jones, Timothy E. Lotze

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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 languageEnglish (US)
Pages (from-to)648-652
Number of pages5
JournalMuscle and Nerve
Issue number4
StatePublished - Apr 1 2016
Externally publishedYes


  • 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)


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