简体中文

MECP2

基因产物：甲基化CpG结合蛋白-2。

蛋白功能：在神经元中表达较高，可与甲基化的DNA序列特异性结合影响一些基因的转录，在神经系统成熟过程中发挥重要作用[1]。

相关疾病：新生儿重度脑病（XLR）[1]；X连锁遗传性精神发育迟滞综合症（XLR）[2]；Rett综合症（XLD）(部分可伴有非进行性疾病中的肌阵挛脑病、Lennox-Gastaut 综合征、癫痫性脑病伴慢波睡眠期持续棘慢波)[3-5]；自闭症（易感基因）（XL）[6]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 27988477(Epilepsy Behav. 2017); 39251501(CNS Drugs. 2024)）

用药提醒：涉及到多系统的治疗，曲非奈肽（trofinetide）2023年被FDA批准用于两岁及以上Rett综合征的治疗。在癫痫方面主要根据不同的癫痫综合征选择用药，丙戊酸钠、卡马西平等均有被报道对部分患者有效[10]，另有部分患者对多种抗癫痫发作药物效果不佳，有报道大麻二酚对部分MECP2相关Rett综合症的难治性癫痫控制有一定帮助[7-8]，此外有报道部分Rett综合征患者脑脊液5-甲基四氢叶酸浓度低于参考值，补充亚叶酸有一定的改善作用[9]。

讨论版块：点击进入MECP2基因突变讨论版块。

 

参考文献

  1. Geerdink, N., et al., MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.Neuropediatrics, 2002. 33(1): p. 33-6.
  2. Lugtenberg, D., et al., Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Eur J Hum Genet, 2009. 17(4): p. 444-53.
  3. Bartholdi, D., et al., Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.Clin Genet, 2006. 69(4): p. 319-26.
  4. Kim, H.J., et al., Genetic and epileptic features in Rett syndrome. Yonsei Med J, 2012. 53(3): p. 495-500.
  5. Bhat, S., et al., Continuous spike and wave in slow-wave sleep in a patient with Rett syndrome and in a patient with Lhermitte-Duclos syndrome and neurofibromatosis 1. J Child Neurol, 2014. 29(12): p. NP176-80.
  6. Yu, T.W., et al., Using whole-exome sequencing to identify inherited causes of autism.Neuron, 2013. 77(2): p. 259-73.
  7. Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial. Epilepsia. 2022 Jul;63(7):1736-1747.
  8. Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome. Epilepsia Open. 2024 Feb;9(1):397-403.
  9. Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid. Neuropediatrics. 2005 Dec;36(6):380-5.
  10. Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. Epilepsy Behav. 2017 Jan:66:27-33.