Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.
Muscle Nerve
; 53(4): 648-52, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26788680
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de la Neurona Motora
/
Proteína FUS de Unión a ARN
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Exoma
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Año:
2016
Tipo del documento:
Article
País de afiliación:
Estados Unidos