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

This study identified a heterozygous de novo variant of unknown clinical significance (VUS) in the fused in sarcoma (FUS) gene [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.
Discussion
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. This article is protected by copyright. All rights reserved.

Source: Muscle and Nerve - January 20, 2016 Category: Internal Medicine Authors: Sonika Agarwal, Lorraine Potocki, Talia R Collier, Suzanne L Woodbury, Adekunle M Adesina, Jeremy Jones, Timothy E Lotze Tags: Case of the Month Source Type: research