A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis

This study aimed to report a novel point mutation associated with juvenile amyotrophic lateral sclerosis (JALS) in a Chinese Han family.

Detailed clinical assessment was applied to two patients, including proband (II-2) and his mother (I-2). Next-generation sequencing (NGS), also known as high-throughput sequencing in whole exon sequence, was performed in the proband to reach the target region. Sanger sequencing was also used to detect DNA sequence variants of the proband and other three members of his family.

The proband (II-2) and his mother (I-2) were successfully diagnosed according to the clinical manifestations and physical examination. A novel point mutation c.1157T > C in the exon 10 of the SETX gene was identified in II-2 and I-2, resulting in a substitution of methionine (ATG) to threonine (ACG). However, we ultimately did not find the same variant in the other two normal members of his family in addition to 100 unrelated normal subjects.

We presented a novel probably pathogenic missense mutation in exon 10 of SETX gene in a Chinese Han family with JALS.