Format

Send to

Choose Destination
Muscle Nerve. 2016 Apr;53(4):648-52. doi: 10.1002/mus.25030. Epub 2016 Feb 22.

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

Author information

1
Department of Pediatric Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, 77030, USA.
2
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
3
Department of Physical Medicine and Rehabilitation, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
4
Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
5
Department of Radiology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.

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.

KEYWORDS:

fused-in-sarcoma (FUS) gene; genetics; juvenile amyotrophic lateral sclerosis; motor neuron disease; spasticity; weakness; whole exome sequencing

PMID:
26788680
DOI:
10.1002/mus.25030
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center