摘要SRPX2蛋白是与神经系统发育相关的一种分泌型蛋白，尤其在语言发育中起着重要作用。在儿童期，语言发育障碍可严重影响儿童身心发育，且往往与智力发育迟缓伴随存在。目前研究表明SRPX2基因突变在人类中并不多见，该基因位于X染色体上，男性突变患者和女性携带者都可能发病，而疾病严重程度与突变位点并不完全相关。SRPX2与语言发育相关的基因uPAR和FOXP2形成语言通路，影响语言的发育。此外SRPX2基因突变影响大脑皮层神经元迁移以及补体介导的突触消除。目前报道的SRPX2基因突变可导致癫痫、语言发育迟缓、智力发育迟滞、孤独症、小头畸形、多小脑回畸形、听力障碍等。该文对SRPX2在神经系统发育过程中的作用及相关疾病进行综述。

abstractsThe 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.