SMC1A

基因产物:染色体结构维持蛋白1A。

蛋白功能:在调节姐妹染色单体聚合和分离、维持染色体结构,以及在调控基因转录和DNA修复中发挥重要作用[1]。

相关疾病:德朗热综合征(Cornelia de Lange syndrome,CdLS)(XLD)[2];发育性癫痫性脑病85型伴或不伴中线脑缺陷(XLD)(多数癫痫发作具有丛集性特点,部分可表现为婴儿癫痫伴游走性局灶性发作)[3-5]。

突变数据库:ClinVar数据库

相关临床研究:PubMed数据库(PMID: 37107610 (Genes (Basel). 2023); PMID: 28166369 (Epilepsia. 2017)

用药提醒:主要根据不同的癫痫综合征选择用药,多数为抗癫痫发作药物难治性,有个例报道部分患者对添加生酮饮食有一定效果(也有效果不好的报道)[6-7]。

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参考文献

  1. Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies. Front Genet. 2012 Sep 12:3:171.
  2. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A. 2010 Aug;152A(8):2127-9.
  3. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet. 2015 Oct;58(10):562-8.
  4. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin Genet. 2016 Nov;90(5):413-419.
  5. Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype. Epilepsia. 2017 Jul;58(7):1301-1302.
  6. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy. Epileptic Disord. 2022 Apr 1;24(2):343-352.
  7. 叶园珍,段婧,胡湛棋,et al. SMC1A基因截短变异相关发育性癫痫性脑病85型患儿4例并文献复习[J].中华儿科杂志, 2022, 60(6):5.