脑瘫是脑发育早期损伤导致的一组非进行性运动功能障碍综合征，是最常见的儿童致残性疾病。关于脑瘫的发病原因仍不清楚，遗传因素在脑瘫的发病过程中起重要作用，至少部分脑瘫患者属于单基因疾病，这为揭示脑瘫的遗传学机制创造了有利条件。通过对479例男性脑瘫患儿的全外显子测序，检测到了4个潜在致病突变均位于X染色体的FRMPD3，这提示FRMPD3是新的脑瘫相关基因，其致病机制可能与相关突变影响FRMPD3-βPIX和FRMPD3-HOMER的互作有关。关于FRMPD3的生物学功能尚不明确，也未见FRMPD3突变与脑瘫相关的报道。本课题拟通过研究FRMPD3与βPIX、HOMER的互作，及FRMPD3突变对FRMPD3-βPIX和FRMPD3-HOMER互作及相关下游蛋白功能的影响，揭示FRMPD3的生物学功能，论证FRMPD3与脑瘫的相关性，也为解释FRMPD3突变导致脑瘫的发病机制提供依据。

Cerebral palsy is a group of permanent disorders of the development of movement and posture, which are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy describes the most common physical disability in childhood. As a lifelong physical disability, the aetiology of cerebral palsy is still unknown. There is a growing consensus that genetic contributions to cerebral palsy are significant and important for understanding the disorder. At least some of the patients with cerebral palsy are part of Mendelian diseases, which provide favorable conditions for revealing the pathogenesis of cerebral palsy. We performed whole-exome sequencing of 479 male cases with cerebral palsy, and detected a total of four potential pathogenic mutations in the FRMPD3 on the X chromosome. This result suggests that FRMPD3 is a new gene linked with cerebral palsy, and their pathogenesis may be associated with these mutations affecting the FRMPD3-βPIX and FRMPD3-HOMER interactions. At present, the biological function of FRMPD3 is still unclear, and no reports of FRMPD3 mutations related to cerebral palsy have been reported. This study intends to clarify the biological function of FRMPD3 by investigating the effects of FRMPD3 mutations on the interactions of FRMPD3-βPIX and FRMPD3-HOMER, and then to demonstrate the association between FRMPD3 and cerebral palsy, and to provide experimental evidences for explaining the pathogenesis of cerebral palsy caused by FRMPD3 mutations.