{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:48:46Z","timestamp":1760147326471},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,22]],"date-time":"2016-02-22T00:00:00Z","timestamp":1456099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>This case report focuses on identifying novel mutations in juvenile motor neuron disease and emphasizes the significance of whole exome sequencing (WES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a 13\u2010year\u2010old 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\u2010wheel rigidity. Electromyography was suggestive of motor neuron disease. After an extensive evaluation, WES was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES identified a heterozygous <jats:italic>de novo<\/jats:italic> variant of unknown clinical significance (VUS) in the fused\u2010in\u2010sarcoma gene (<jats:italic>FUS<\/jats:italic>) [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\u2010causing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The genetic etiology of amyotrophic lateral sclerosis (ALS) is heterogeneous and, as clinical sequencing for <jats:italic>FUS<\/jats:italic> was not available, WES was the only method by which a diagnosis of juvenile ALS could be made. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>53<\/jats:bold>: 648\u2013652, 2016<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25030","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T23:44:50Z","timestamp":1453333490000},"page":"648-652","source":"Crossref","is-referenced-by-count":14,"title":["Utility of whole exome sequencing in evaluation of juvenile motor neuron disease"],"prefix":"10.1002","volume":"53","author":[{"given":"Sonika","family":"Agarwal","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Baylor College of Medicine, Texas Children's Hospital Houston Texas 77030 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine, Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talia R.","family":"Collier","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation Baylor College of Medicine, Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne L.","family":"Woodbury","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation Baylor College of Medicine, Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adekunle M.","family":"Adesina","sequence":"additional","affiliation":[{"name":"Department of Pathology Baylor College of Medicine, Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Radiology Baylor College of Medicine, Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy E.","family":"Lotze","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Baylor College of Medicine, Texas Children's Hospital Houston Texas 77030 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0072-9752(07)80018-2"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq137"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154584"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1742"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1166066"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-166"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/421054"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ed9cde"},{"key":"e_1_2_5_11_1","first-page":"653","article-title":"Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis","volume":"69","author":"Belzil VV","year":"2010","journal-title":"Arch Neurol"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds479"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0047056"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds526"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21241"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482968.2010.536840"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6292-6"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0837-8"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.02.009"}],"container-title":["Muscle &amp; 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