MBD5基因介绍

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MBD5基因介绍 was created by 凤凰

基因产物:甲基化CpG结合蛋白5。

蛋白功能:属于甲基化CpG结合蛋白家族,参与DNA甲基化,可导致染色质结构改变并介导一些基因沉默[1]。

相关疾病:智力发育障碍(AD)[2]; Lennox-Gastaut 综合征 (AD)[3]; 婴儿癫痫性痉挛综合征 (AD)[3]; 癫痫伴肌阵挛-失张力发作(Doose 综合征) (AD)[3]。

相关临床研究:PubMed数据库(PMID:  33912662 (Neurol Genet. 2021)

用药提醒:主要根据不同的癫痫综合征选择用药,部分患儿对 丙戊酸钠 有效,卡马西平可能加重一些患儿癫痫发作[3]。


参考文献
  1. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 7;89(4):551-63.
  2. MBD5-related intellectual disability in a Vietnamese child. Am J Med Genet A. 2021 Apr;185(4):1321-1323.
  3. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Mar 18;7(2):e579.
26 Mar 2025 22:33 #1

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