SPTLC2 gene mutation leads to childhood amyotrophic lateral sclerosis: a case report and literature review
10.3760/cma.j.cn113694-20230915-00167
- VernacularTitle:SPTLC2基因突变导致儿童型肌萎缩侧索硬化1例并文献复习
- Author:
Xunzhe YANG
1
;
Qingyun DING
;
Mingsheng LIU
;
Yuzhou GUAN
;
Yi DAI
;
Liying CUI
Author Information
1. 中国医学科学院北京协和医院神经科，北京 100730
- Keywords:
Amyotrophic lateral sclerosis;
Child;
Serine palmitoyltransferase;
SPTLC2 gene;
Mutation
- From:
Chinese Journal of Neurology
2023;56(12):1355-1360
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the clinical characteristics of a case of childhood amyotrophic lateral sclerosis (ALS) caused by SPTLC2 c.778G>A (p.Glu260Lys) mutation. Methods:Whole exon sequencing or whole genome sequencing data from 1 936 patients in the ALS cohort of Peking Union Medical College Hospital were screened for SPTLC2 gene mutations. Clinical data, laboratory examination, neurophysiological examination and genetic test results of the proband were collected. Results:Only one 9-year-old male child with SPLTC2 gene mutation was found. He was admitted to the Department of Neurology, Peking Union Medical College Hospital in December 2022 due to"progressive limb weakness for more than 4 years". Physical examination revealed atrophy and fasciculations of the tongue. Weakness of 4 limbs, muscle atrophy, as well as bilateral hyperreflexia, clonus, and Babinski sign were present. Whole genome sequencing indicated that SPTLC2 gene had c.778G>A (p.Glu260Lys) missense mutation, and no other pathogenic mutations of ALS related genes were detected. Sanger sequencing and family verification showed that neither father nor mother carried the mutation, suggesting that it was a de novo mutation. Nerve conduction velocity test showed no abnormalities, and electromyography suggested neurogenic lesions. Neurofilament light chain in cerebrospinal fluid and serum were increased significantly. The patient′s symptoms continued worsening even after oral administration of L-serine. Conclusion:SPTLC2 gene mutation can cause childhood ALS, and further study of its potential pathogenesis is helpful to uncover another potential pathway of ALS and a novel therapeutic target.
