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.

中文翻译：

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从头开始的c.1509dupA：p.R503fs突变为FUS：一名散发少年肌萎缩性侧索硬化症的女孩的报告

少年肌萎缩性侧索硬化症（JALS）是一种罕见且严重的ALS。测序方法的发展导致近年来有关JALS病例的报道增多，在这项研究中，我们在融合于肉瘤（FUS）的RNA结合蛋白的外显子14 c.1509dupA：p.R503fs中鉴定出一种新的杂合突变。在一名17岁的散发性JALS的女性患者中，该患者经历了肌肉萎缩的快速发展，并在发病后15个月死于呼吸衰竭。该患者的特征是早期发作，进行性肌萎缩和四肢无力，而没有智力障碍。