Progress on nervous system diseases and pathogenic mechanisms caused by SRPX2 mutations
10.3760/cma.j.issn.1673-4408.2024.10.005
- VernacularTitle:SRPX2基因突变导致神经系统疾病及致病机制研究进展
- Author:
Xiaona LUO
1
;
Cheng CAI
Author Information
1. 上海交通大学医学院附属儿童医院 上海市儿童医院神经内科200062
- Keywords:
SRPX2 gene;
Language pathway;
Epilepsy;
Migration of cortical neurons;
Synaptic elimination
- From:
International Journal of Pediatrics
2024;51(10):669-673
- CountryChina
- Language:Chinese
-
Abstract:
The SRPX2 protein is a secreted protein associated with the development of the nervous system，playing a particularly important role in language development.In childhood，language developmental disorders can severely affect children's physical and mental development，and often coexist with delayed intellectual development.Currently，mutations in this gene are not common in humans.The gene is located on the X chromosome，and both males with mutations and female carriers may develop symptoms；the severity of these symptoms ars not entirely correlated with the location of the mutation.The SRPX2 gene forms a language pathway with the uPAR and FOXP2 genes，affecting language development.Additionally，SRPX2 gene mutations affect the migration of cortical neurons and complement-mediated synaptic elimination.Mutations in the SRPX2 gene that have been reported to date can lead to epilepsy，delayed language development，intellectual disability，autism，microcephaly，polymicrogyria，and hearing impairment，among other conditions.This article reviews the role of SRPX2 in the development of the nervous system and related diseases.
