Clinical features and genetic characteristic of SLC6A1-related neurodevelopmental disorders
10.19845/j.cnki.zfysjjbzz.2023.0078
- VernacularTitle:SLC6A1基因变异导致神经发育障碍的家系分析
- Author:
Liqing CHEN
1
;
Yan LIU
1
Author Information
1. Department of Pediatrics,Tongji Hospital,HuaZhong University of Science and Technology,Wuhan 430030,China
- Publication Type:Journal Article
- Keywords:
Epilepsies;
Myoclonus-dystonia;
Gene;
SLC6A1
- From:
Journal of Apoplexy and Nervous Diseases
2023;40(4):322-326
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and genetic characteristics of epilepsy and neurodevelopmental disorders caused by SLC6A1 gene mutation. Methods The clinical data of a patient with SLC6A1 gene mutation from Tongji Hospital,HuaZhong University of Science and Technology was collected. The related literatures were reviewed to summarize the characteristics of SLC6A1 gene mutation and the clinical phenotype. Results A 2 years and 6 months old girl was enrolled in the study.Her first attack happened at the age of 20 months and leg shaking,standing instability and wrestling accompanied by frequent blinking were observed. Cognitive development was impaired,especially the language. Electroencephalography (EEG) was abnormal with slow background rhythm and extensive high amplitude slow wave spike slow wave during the sleep and awake period. Brain MRI scan showed bilateral frontal lobe speckled lesions with high intensity on T2 Flair sequence. Gesell assessment scale showed development quotient 64,and development age 21 months. Children autism assessment scale suggested that there was no obvious autism performance. Whole exome-sequencing study identified a heterozygous variant of c. 889G>A (p. Gly297Arg) in SLC6A1 gene. Both her mother and grandmother of the child carried this mutation. Summarizing the previous literatures,the main clinical characteristics related to SLC6A1 gene mutation were epilepsy (absence,atonic,myoclonus and myoclonus-atonic),developmental retardation,cognitive impairment and autism or autism-like manifestations. The variants of SLC6A1 gene included missense mutation,nonsense mutation,frameshift mutation,splicing mutation,and chromosome microdeletion. Conclusion The main SLC6A1 variant was missense variant. The main clinical features of patients with SLC6A1 gene mutations were epilepsy and cognition impairment. The relationship between genotype and phenotype needs further study. Valproic acid is the first-line drug and PBA is the potential effective drug.
- Full text:202406171936165151Clinical features and genetic characteristic of SLC6A1-related neurodevelopmental disorders.pdf
