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Utility of whole exome sequencing in evaluation of juvenile motor neuron disease
Author(s) -
Agarwal Sonika,
Potocki Lorraine,
Collier Talia R.,
Woodbury Suzanne L.,
Adesina Adekunle M.,
Jones Jeremy,
Lotze Timothy E.
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25030
Subject(s) - fasciculation , amyotrophic lateral sclerosis , motor neuron , exome sequencing , progressive muscular atrophy , electromyography , hyperreflexia , medicine , neuromuscular disease , lower motor neuron , disease , physical medicine and rehabilitation , pathology , biology , genetics , anatomy , mutation , surgery , gene
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. Muscle Nerve 53 : 648–652, 2016