SYN1

基因产物:突触蛋白1。

蛋白功能:在成熟神经元中表达,可和突触小泡表面结合,在调控突触神经递质的释放以及在神经元发育中起到一定作用。

相关疾病:X-连锁性癫痫伴可变的学习和行为障碍(XL)(反射性癫痫是其最具代表性的临床表现之一,超过一半的病例由接触水(如洗澡)引起)[1-3];X 连锁智力发育障碍(XL)[4]。

突变数据库:ClinVar数据库

相关研究:PubMed数据库(PMID: 21441247 (Hum Mol Genet. 2011); PMID: 14985377 (J Med Genet. 2004); PMID: 36568968 (Front Cell Dev Biol. 2022))。

用药提醒:有文献报道丙戊酸钠对该基因变异所致的癫痫发作有较好效果,另也有奥卡西平拉莫三嗪舒噻嗪等使用后癫痫发作消失的报道[3,5]。

讨论版块点击进入SYN1基因突变讨论版块

 

参考文献

  1. Fassio, A., et al., SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum Mol Genet, 2011. 20(12): p. 2297-307.
  2. Garcia, C.C., et al., Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. J Med Genet, 2004. 41(3): p. 183-6.
  3. The different clinical facets of SYN1-related neurodevelopmental disorders. Front Cell Dev Biol. 2022 Dec 8:10:1019715.
  4. A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. Hum Mol Genet. 2017 Dec 1;26(23):4699-4714.
  5. Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate. Neuropediatrics. 2023 Jun;54(3):206-210.