A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis

Abstract

Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe form of ALS. The development of sequencing methods has resulted in increased reports of JALS cases in recent years, this study, we identified a novel heterozygous mutation in exon 14, c.1509dupA:p.R503fs, of the RNA-binding protein fused in sarcoma (FUS) in a 17-year-old female patient with sporadic JALS who experienced rapid progression of muscular atrophy and died of respiratory failure 15 months after onset. Early onset, progressive muscular atrophy and weakness of the limbs with absence of intellectual impairment were the characteristics of this patient.

Keywords:

• Juvenile amyotrophic lateral sclerosis
• fused in sarcoma (FUS)
• neurodegenerative disease
• de novo mutation
• sporadic

Author contributions

L. Chen collected the data, wrote and submitted the manuscript for publication. J. Li and H. Lu diagnosed and treated the patient. Y. Liu performed the muscle biopsy.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was supported by the program of Science and Technology Development of Henan Province of China [NO. 2018020044].